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Grey Case
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Gontents
Preface
Dedication
Acknowledgements vi
Abbreviations vi
vii
Ouestions 1-10
Answers'l-10 1
Ouestions 1t-20 10
Answers 11-20 19
Ouestions 21-gO 31
Answers Z1-3O 41
Ouestions 31-40 49
Answers 31-40 57
Ouestions 41-S0 72
Answers 41-50 81
Ouestions S1-60 92
Answers 51-60 101
"112
Ouestions 6l-70
Answers 61-70 121
Questions 71-gO 133
Answers 7i-90 141
Questions g1-90 151
Answers 81-gO 159
Ouestions g1-1OO 171
Answers g1-1OO \ 181
190
ouESTroNs 1-10
Case I
A.13-year-old girl presented to iccident and Emergency (A&E) with a
history of lethargy, joint pain and cough. Both of hlr parents are from
Jamaica. Her problem started 1 month ago, with an upper respiratory
tract infection (URTI). She was seen by her family docior, and a viral'
infection was diagnosed. She had a past history of rashes on her
body, but her family doctor never saw them" On examination, she has
palpable cervical lymph nodes of various sizes, a congested throat,
generalised myalgia and a swollen ankle joint on the ieft side. Her Bp
is 120175 mmHg, HR 90 b.p.nl. and RH 2ljmin" A urine test showed
protein + with red cells. Other test results are:
Hb 9'7 slot
wee 4 x 10sll with neutropenia and lymphopenia
PLT 100 x 1Oe/l
Ret 2.6%
CRP 20
'1. Which three other important investigations should be carried
out?
2. What treatments should you prescr,ik?
3. What are three possible differentia! diagnoses?
She was admitted for further investigation and on the second niglrt,
her oxygen requirement increased to 3 Unrin via a facemask to
rnaintain a Sat level above g3%. p,f l eultures were negative,
4. Which single investigation should you carry out?
l-ier eo.ndition got \ /orse, she was transferred to the paediatric
intensive care unit (PlCt,), she required ventilation, jnd othei
procedures were carried out. Her blood pressure remained high
(130/9S mmFlg) and she was treated with nifedipine.
A, kidney*US
scan was reported as normal, as was a horrnonal study. She was
treated with antibiotics for 7 days. A viral titre shows tle ror Etsv" ,q
fitlantsux te_st is very weakly positive, although she hal never
received a BCG.
5. Whicl'l three other investigations may help the diagnosis?
6. What other treatment should be added at this stag-uZ
ease 2
Ai: ir:f*nt baby.girl.aged 86 rncnths was seen in A&E with a l-ristory *f
vcmiting anci dlarrho*a for the pravious 3 days. [n the last t4 hours.
she beeanre irritoble alrd gre'w p*ie. $he ls n*t intei"ested ;n **tiri
bui"rs ct!ii clil"riiirrg fiuic*. $hs l"v*s, *i:rr-: fuii terr.c *6d l:*r r-,i: pi,*;i,r:,,ii
.r.;!iJ...,i-. ?;,a -lff. lir" l,"r*? :,. * li, .1. i .r,:.;r,;r:i;;3r ::Cnt,"A i.:";,;
t:-1 -Z
.l;,,:- ts i- i::. ri,, :ft*iiilrei":i1 .;h.; r*Cti:ti iS hea,,ilirrr pll:;i"t";1L, Tir:r
:;lfl:;"r': !,-'i:l"S fi::i;t ,,.,t1.'i, * J:*:-ipi:;1.:ri ..;:.ijiat._; X:flii iS;_i] 1-1j. *q r; i.i::. i..1ti i;
2 100 Grey Cases in Paediatrics lor MRCFCH
Case 3
An 1l-vear-old bov was referred to A&E with a history of limping
i
proximal muscle groups in the right upper and lower limbs. The
reflexes are present and the sensation is intact.
2. Which three differential djagnoses are correct?
a Guillain-Barr6syndrome
b Myeloencephalitis
c Myositis
d Spinal cord injury
e Sciatic nerve injury
f Hemiplegia secondary to intercerebral insult
g Dysraphism
hMS
i ADEM
3. What two abnormalities appear on his cranial MRI?
Case 4
$irrce the age of 3 years, this 7-year-oid girl has presented with a
history of recurrent rnouth ulcers. she wis born by a fuli-term norn:ai
delivery TFTND) and her mother said she is a heart-hy, girl. Her mcthe!"
has ulcers in her rncuth fronr time to time but, not as many as hei"
for MRCPCbi
4 100 Grey Cases in Paediatrics
il;t-;o?;lrauTt is a period of 6
less frequent and she *lu J"t *tEm ojr-ce-':nlv over
one ulcer on ine
weeks' Shc is J'hianf'V-Voung. girl with
br nuii**t lip' The test results are:
ili=-|"iiJt i--1""u"*ntty
Hb 10.2 gldt
\rycc 7 x 10e/l
PLT 380 x 10eil
MCV 80 fl
MEHC 32 g/dl
LFT Normal
Stool Normal
in
should be carried out and
1. Whieh three other investigations
what order
a ESR
-U-oo"t
; GIT endoscoPY with bioPsy
I Eiio*vsealantibodies
; sioor for reducing substances
e Barium swallow
f Dental check for Candida
t T[i"tt swab
the risure berow?
z. hmPrt.liLtt""::*ifii;' are visisie in
a LYmPhocyteinfiltration
; io:taivittousatroPhY
I Pt.titt villous atroPhY
d Normalvilli
I Granutomatouschanges
Case 5
A 6-week-old infant has a history of persistent cough and wheeze for
1"9-?V., He is totally breastfedrnd feeding,has become increasingly
!.itrigytt in last 3 days. There is no history of whoop and he is afebrile.
His birthweight'ivris 3.5 rerald he now weighs 3.g kg. Flis older sister
had a febrile seizure at the age of 1 year. The family lives in a two-
bedroomed flat and his father works as a builder. There has been no
contact with anyone who has sinrilar illness and there is no history of
travel abroad.
The infant is active and has a Sat level of 92% in air.
He is using all his accessory muscles and there is no stridor.
Crackles were heard just before his cough and at the end of
inspiration.
1. Which two abnormalrtes ap.pear on the CXR?
Case 6 'i"rst .r
*or""or"re state than she did. This sisler required ventilation for 3 mtmmfuc rnmrq ffrarSEE
*""tr, and was less alert, had ioint contractures, clenched fists, flm]fltr|tr m**trrp*lq.mrudl. rrrr U
and she tlru mummmq" &fsr tle
t ii"rii". and was grossly floppy. Treatment wre withdrawn uni
I
Ouestions 1-10 7
d Arthrogryposismultiplexa
e Spina bifida
f Hereditary sensory motor neuropathy type 1
g. Dysplasia punctatae congenital .
Case 7
A.13-year-old boy presented to A&E with a history of abdominar pain,
which was felt mainly on the right side of his, abdomen. He is a keen
footballer and played a game oi footbail 2 oays ago for about 2 hours.
H.is p.ain was very sharp and radiated to his gioinlNo vomiting
or
diarrhoea occurred. The surgeon diagnosedlppenciicitis and is[ed for
blood and urine tests to be carried out. ue was admitted overnight and
put on the next morning's operating list after review by a consuitant
surgeon. His urine test showed a RBC of more than 20b and no
leukocfres. He slept overnight after being given ibuprofen but by 4.00
a.m. he starled shouting.as_the pain got worse and was now spreading
to his shoulders and back. Review wis made by the surgeon, who
prescribe.d more analgesia, and a request was made torlne
boy to
remaln nil-by-mr:uth in preparation for a possible appendectomy by
the rnorning. After the ward round, an US of his kidneys and abdomen
owas organised, and it came
back as normal. The paediatric team was
asked to revievuthe case, as he starlec corrrplaining of spasnrs in his
Negs, arms, shoulder and said that they were painfJ!. He'was
very
irritable and jumpy vuhen touched or talked to" He was started on
antibiotics and acyciovir. and a bra!n cr scan was organised, w[:ie h
can'ie back as normal. even wlth {:ontrast" Oilrer.test iesulis are:
i.{ ir 13.3 g/rjE
12 x 18ell t[\ 82%, t_ 396i
i}LT tr 5C x 10s/l
! nrr
L.i-r f'l 15$il nlmolli
t" F. 6850 rnmrol/i
AIT
r50 tu/l
Atk. Ph s*CI ru/i
vGT 200 tuli
Atb 37g/at
Eiiirubin 37CI prn'roi/! (conjugat*C i57i)
3[J rnnrlhour
.RP i3 after 2 ureeks
t-
I
I
a1d-Roolweight gain
An 18-month-old girlwith a history of vorniting
wetl tneiast 3 months and
" iwil'fiir Mllil'B,,' DrI*'t{s:
was seen in A&E."Sl"ie has not been very
i-n
iarteO to vomit and was not t -ffmrG TSr Ir-Ir]E,I
in the last 6 months, after a URTI' she gestation.bv-!:9-q^ ! -rnm&rtrmrrfE S"ii"[
pH 7.56
EO, 4.2kPa
rc2 10 kPa
HCO3 33t
Be 1
Case 9
A child presented with a history of recurrent wheeze and ear
infections. He is now 2 years old and his wheezing episodes are
under treatment with a regular budesonide inhaler and Bricanyl on a
PRN basis. His ears are red and his left ear has a discharge. His
mother said that this is the eighth ear infection he has hid this year.
scattered wheeze was found on examination of his chest and there is
no organomegaly. Other test results are:
Hb 13 g/ot
WCC 20 x 1Os/l
N 70%
lsG 7 s/l (6.5-16 g/l)
lsE 199/l (< 2 g/l)
Ear swab Pneumococcus
Sweat Na 15 mmolll (40-60 mmol/l)
CXR Hyperinflated with bronchial thickening
1. What other one test should be carried out?
a Urine for protein
b Lymphocyte subsets
c Skin prick test
d lgG subclass
e NBT
f Stool for elastasis
g Hearing test
h DNA linkage study for AS08
2. What are three appropriate steps in managing this child?
a Prophylacticantibiotics
b Bronchodilator
c Antihistamine nasal spray
d Grommet insertion
e Regular lg transfusion
f Advice on allergy
10 100 Grey Cases in Paediatrics for MRCPCH
o Referral to dietitian
dtrna b Pleural flukl cltt
t negutar inhaled corticosteroids for his c Lymph nod€ b{€
6. a Steroids
case 10 F
b NSAID
A 13-vear-old child with a history of fener and le*fiargy subsequently Systemic luprr crythrrrr
was no history o( travel abroad. Her
?"r"rli,"o-."rit ui"".s. rnererecently
father is a heavy r*oi"i, has had a productive.cough and is Sl-E is a muhisysterr c S
;;;; inuestigaiion. Shesaid she feets hot allthe ilme but has no Si can be presen:ec rt.-
;;ffi';; d;ioi *"iJnt. There is a tender, paintut srellins.on both n gh index of suspicrc-, s
lower limbs tf,"t 2 days ago' l-buprofen helped a.lot' but the pres€nt wilh muftionca-
"pp"""t"d stitt there. Her throat is mildlv
!*Liii"i,'*r,i.tt robii. iite bruises, ii 1:10 -- € com m, cnes.: c-E_s€^:
;;;;;;6i-"no a rvrantoux testwhh 0o0 and 1:1000 is negative.
";CA 5gn -ashes va-, -:
Thecoeliacscreen.noesnarealsonegative;theESRisonly2.She
opens her bowel -:.c€r.a o: lust ea-e-i
started to menstruate S ;onttts ago, irrEgularly. She f"-a:-.es varf frcr .e-.e
r"gJi*V and has had no previous health problem' t, :,:,i pressl re" frllaca -:
'1. What are the three most likely diagnoses? et-sc:: a!.e g:ler fea:_-r
a StrePtococcalthroatin{ection ;6r:;;5i6rn ar6| 5gi.-;r.Eg ,
b Coxsackie virus A in{eetion ::e :,4-.asis or S.E
"e-,
c Coeliac disease 'lef--36s 'css !r,,-s_3 s,i
sr6gr.5
d SLE Or.:CeS rS a i,:ie*
3l$:.aefs (€ 1f'".3rgt*l rTrS
e Crohn's disease
] -:riri6cril,pBnr€ e.-_: rl
f Ulcerative colitis
g Tuberculosis r.t--artbcd€s 3-=
6 HetPes gingivalstomathis . . .
what ]r.f. r^fu: S -Or?=€s: S,:a
2. Wf,i.n two inve"stigations should be carried out and in :laqnclsr.lg SL-E r-s :i
order? nir *rF!F!el|-L ctdc=cr =
b Pteuralfluid cpology
lvmph node biopsy"
6. a Steroids
b NSAID T '
Case 2
1. c Renaland Doppler ultrasound
b INR
d U&Es
f FBC
2. f Right renal vein thrombosis
3. Hehydration
Heparin
Regular check of area and electrolytes
CGr {
Case 3
' : E-occ:rp e-e
1. c Right and left knee X-raY ! U;.€€r GlTenocq
2. a Guillain-Ba116sYndrome - rg amd ffi s.,&i
c Myositis :. : Tel viltonls me
f Hemiplegia (stroke) a Lrnpttcfe lmffi
3. Perventricular densitY on left I Gr,en-serrsithe ae
4. CK
LP Ghtuii'fl.{irrc GIE'OF
lncreased white matter signals around artrerior hornes of lateral
ventricles on left and right -trurre rlc -ei\ a.Eer o
5. ADEM t-rirnE :f&;T6 rizr rrig
Demyelination -1E prGrffi6gfoa ci :tel.
Myelination in newborns is not formed until later in infancy. mffi u+,d$y dur.iirq i!-ift
nntrc e r.cr.ni-y rre otrE
Demyelinating diseases in newborns are very difficuh to diagnose until
the end of the first year of life. The MRI scan is very good for: picking up "rri.Efi nlS3-l.. E r{Eft t.
changes in whhe matter. There are few demyelinating diseases of aTU=Er-r.fle r:
childhood. A number of condhions affect the brain with demyelination, -
ICrSilng a )ffi c' wr.T'nE
including ADEM, MS, and leukodystrophy. Transrverse myelitis and Ttr6lersDtrliior. : a {ar:
Guillain-Ba116 (GB) syndrome affe€l the spinal cord. -eSng *o,n a:r--6liliadr r
rue s:ihe screer iri fitl.lE
ADEM is a version of MS in children. lt is usually preceded by a ifo -re Dresere C a -tl
viral-like illness, and symptoms can then appear as falls, hemiplegia t rctrr |lllgh susoreor :f I
appear very quickly and remain for weeks or months, and then
disappear with full or partial recovery. Children are usuaily tethargic,
and limb ataxla and brisk tendon reflexes are a common finding. MRI
is very good at picking up low Sgnals in white matter, and contrasted
CT may also be very helpful if MRI is not available. The prognosis is
unpredictable and a course of corticosteroids may help.
Aase 4
1. c Endomyseal antibodies
b Upper GIT endoscopy with biopsy
h lg and lgG subclass level
?. b Total villous atrophy
a Lymphocyteinfiltration
3. Gluten-sensitive enteropathy (coeliac disease)
Gluten-sensitive enteropathy (coeliac disease)
There are rnany causes of mouth ulcers, which include idiopathic
causes, trauma, viral infection, inflammatory bowel disease, coeliac
disease, and gastric ulcers.
The presentation of coeliac disease can be at any time of life but
most usually during introduction of solids in the first year of life.
There is usually one other member of the family affected and a
detailed history is very important. The presentation is varied, from
failure to thrive (FTT) in the early days to !.ecurrent mouth ulcers and
passing a lot of wind with anaemia. lt is usually associated with
malabsorption, in a form of anaemia and stool loss from time to time.
Testing for antigliadin antibodies as well as endomyseal antibodies is
part of the screen in children, with FTT in the first or second year of
life. The presence of a high level of endomyseal antibodies indicates
a very high suspicion of coeliac disease. The diagnosis can be
confirmed by jejunual biopsy during illness or after changing to a
gluten-free diet. lt is a life-long condition and patients should be on a
gluten-free diet, as the risk of intestinal lymphoma increases in
people who do not adhere to this. Another complication associated
with coeliac disease is occipital lobe calcification; whether this has ltr
Gase 5
1. b Hyperinflation
c increased bronchiai airway thickening
?. Comperrsateei respinatony acidosis
3. b ndPA
14 100 Grey Cases in Paediatrics for MBCPCFI
Eronchiolitis
Bronehiolitis is one of the illnesses that affeets infants and pea*:
bet{ryeen octoberto March each year. some affected infants rr,:
need hospital adrnisslon and suppont, including exprernature '' '
with e!-D; those yeiurrger than 3 rnonths of age; and infants wi:'''
heart, l{:ng, anel CNS diseases. Eetween 1olo and ZYomay requ
adnrissrorito the F$CU but the rnajority of bronchiolitic infants :
eome to i.rospita!. l"here is no v€ccine but n'ronoclonal antibod : "
ease 6
1. a Congenitalmyotonic dystrophy
2. b EMG
a Tensiion test
d Muscle bioPsY
3. Poor
4. Supportive
Genetic counselling
Palliative care
Myotonic dystroPhY
This is characterised by the association of myotonia with a dYs*
process of muscles with various endocrine and musculoskelet:
abnormalities. tt is transmitted as an autosornal dominant disc
and if present in the neonatal period is always transmitted fro.r
rnother but, ln the adolescent period it is usually transrnitted f r:
father. There is an expansion of a cTG triplet repeal associatec
the gene for myotol"tia protein kinase. The length oT the"repeat
incrEases in successive generations, especiaily when it is rnate
transmitted. There is a strong relation between the length of th:
repeat and ctinical severity and age o{ onset' The clinical prese-
is variable, frorn genera!ised rnyotonia to prominent weakness
Myotonia can be seen by tapping the thenar m.uscle or tongu:
thumb wiil remain opposed and the tongue will remain dimple:'
Relaxation of myotonia can be demonstrated by shaking hands
fatients. Atrophy begins on the face and" is followed by the shc
girdle and leg musclis. Smooth-muscle involvement may be,s'
iecreased ga]strointestinal motility, and constipation is a well'
Answers 1-10 15
Case 7
1. a Brain, MBI
b EIMG
c Urine toxicology
2. a Leptosirosis
b Myositis
c Drug abuse
Musele spasrns
Muscle pain following exercise is usually secondary ts loss of fluids
and electrolyres. Stretching may reverse the muscle spasms. Other
spasms that are not related to exercise may be due to various ca!!ses:
electrolyte imba!ance, hypothyroidism, hyperthyroidisrn and
hypoadrenalism are the main causes. lnfection such as tetanus, whieh
is very rare, ieptospirosis, and strychnine poisoning may also cause
rnuscle spasms but are rare causes. The metabolic causes are many
and this can be diagnosed by rneasuring lactate, NH., and creatinine
kinase, and any abnormalities of tl"rese should help in reaching the
diagnosis. Muscle biopsy and EMG are very important in reaehing the
final diagnosis.
Pain rnanagement secondary to muscle spasms can be very difficult
in children. Llnresponsiveness to appropriate use of analgesic agents
might be in addition to physical or psychological dinrensions of the
pain thet are not addressed by the analgesics. ln addition to
appropriate analgesic therapy, the psychological necds of the child
should be addressed directly and appropriate adjunctive physical
rnodalities employed. Benzodiazepines can be used; even if they do
not provide direct analgesic effects, they can reduce the distress
associated with acute pain states by decreasing anxiety, insomnia,
and rnuscle spasrns that can be associated with acute pain.
r 16 100 Grey Cases in Paediatrics for MRCPCH
Muscle spasms can present as seizures or a jumpy baby in the $fidass measurern€rfi sf]
neonatal or infantile period. This is called hyperkeplexii and it begins rtibody response ard a I
with generalized hypertonicity accompanied by brisk muscle stretch prophylaaic co-tri rnoxat
reflexes, intermittent clonus, and an exaggerated startl€ response and rrnall of group of ctrildrer
it is benign. Anticonvulsant drugs will not be very helpful. Spasms inrmunisation with SG srr
can be familial or sporadic. Nose tapping in infants of affected *mmunoglobulin every #
families induced a uniform reaction of facial twitching accompanied school and after sctrool h
by head extension, and a generalized flexor spasm, all of which may viral infections. Sorne rna
be a hallmark of hyperkeplexia. Small doses of benzodiazepines will most often betrleen the r
almost always show some benefiu all affected individuals becoming deficiency problern arrd u
asymptomatic by 2 years of age. There is no need for further undertaken to reassure f
investigations if a positive family history is suspected. needed.
CaseI Ctrc l0
1. d Bartter syndrome 1. a Stre$ococcd tfu
2. Serum K, Na e Crohn's cllsere
Bartter's syndrome is a familial disorder characterised by activation
b Cosactie Yinls,r
of the renin-angiotensin-aldosterone pathway in an attempt to
2- f ASO titrer
recover sodium chloride from the distal nephron. This causes an
c Throc[ sd
increase in potassium and hydrogen in urine secretion which will lead Strcmocmtffi*
to hypokalaemic alkalosis. Affected individuals usually present with
FTT, poor tone and lethargy, poor feeding, polydipsia and polyuria. lt ArionS tf- qrscs otf rrrc
may also be associated with developmentaldelay. Hypercalciuria and infucfirr. T
,ireii as virC
bone demineralisation are due to an increased production of firud ir*ettions. Ba-tu
prostaglandin. Nephrocalcinosis is a serious and early complication. group A are nnore so tha
Potassium, sodium and chloride supplementation is needed as well !c,4f,rlr the infertion- A t
as regular renal scans. Prostaglandin inhibitors such as indomethacin tc,d^.s,i€r and posteri'o,r pt
are indicated and angiotensin-converting enzyme (ACE) inhibitors i nked rn rn un oa
enrV.,'ne-l i
(captopril) will help. lf older children present with this syndrome, it is wH€h cirn be done wfrilr
usually milder and they have no renal problem. Gror.rp A strePtococcar at
Trea'ting red throats ls aii
to viral infe*ion- t-age,
Case 9 -i!
use the child
"rs
uqte{L
1. d lgG subclass be carried out Pronnfrfo
2. a Prophylacticantibiotics alter 214 hot"ln !f :he ,
ll
i
Answers 1-10 17
ti:
Case 10
1.a Streptococcal th roat infecti on
e Crohn's disease
b Coxsackie virus A infection
2.f ASO titres
Throat swab
Case tr'8
For tlre last 4 wceks, a boy a$ed t 1 years has heen seen im ar:
o.utpatient department with a history of cough and ebdmnrinai Erairr.
['{e is passing frequemt stools, sometinres cohtainlng rnucurs. l{is
appstitCI is not very good and he has lost sorne weight" $me of hls
s*hoolteaehers describes hir:rr es having loot his touih ancl becorne
very nervet}s. l-lis father died when the boy was g years old, ft:llowing
a cerebral haernorrhage. *"lis sister is IE years old and i* d*ing very
s.;eii. His rnother was admitted to hCIspital 1 year ago with a possihle
diagnosis of hneast eanccr. Later that year, a!! of hii rnothcr's results
came back as norrnal.
The r:ough is described as dry, mainiy occurring at night, and there
are no other symptorns. There is no history of travel abroad sinee his
father's death and he is a youth member oi a local football club. The
farnily lives in a three-bedroorned detaehed house and his mothcr
vuorks as a sales manager, fulttirne !n the last 6 months.
irn fi B!€EririirL!6
g Check child-protection register fred md dl+d pl.?f- Sh
6 Arrange for forensic medical examination (FME) etp€rrsf,y**lodirc d
3. What are the three abnormalities visible on this slide? rylnrr*y-TfcCficncra
rEi gait re norrd- CT u
Ithat b the dagrEi
a ffi;rcfter*e gmm
h E1e nqdoflh
c Fs,rtfi rsl? pca
C TH rsve p&
e Ofric ranrrtirs
f Cervhd rmb
g hrtrroedr ryhd
LjmthrE poee& cr
a ldopdric
b 8€tt1rt irsr*a
: ffico@smrhil
o 8rr*heteb
c StE
f Trrmne
Utnr rcffic rlat !frr
drurtrbcrrhi op
a LymphocYteinfiltration r ftulfiegraini
b Goblet cells ! fu*rdtmd
c Non-caseatinggranulomatouschanges cffiA
d CryPt abscess d ft@mmntu-
d Ulcers r AludfrE
e Giant cells f hEc
f Transmuralinflammation 9mhrele
ffi
4. What is the most likely diagnosis?
a Crohn's disease Ifuffimrr
b Ulcerative colitis 1i utuffito
c Eosinophilic colitis f, (ffiqilrn
d Schwachman sYndrome
e Cystic fibrosis (CF)
I GIT tuberculosis bI
s Recto-anal fistula
Child sexual abuse (CSAi
f*p*rufruFm
h tdb.hdtu:
"fih&mihnqofrrc
Gase 12 ffi.hmmt
ffidUmd.I,tr
A 20-month-old child presented with a sudden onset of a dropped
;ight ;fu;, eyelid. There is no other abnormali'ty. There is a history of lpaobdmrft
re-cent hand-ioot-mouth disease, which occurred iust 1 week earlier. ffi.L-hrr
The family were camping in a forest for 2 nights, 6 weeks ago' Her ffil*dlcrrd
brother, who is 10 years old, complained of a headache 1 year ago, gifblr*m
which resolved after a few months. The mother has suffered from Cmn*Ldffir
cluster migraine but not in the last 6 years. Her father is a milkman :m !
und is dyjlexic. Her two older sisters are fii aird well and there are no
pets in the house.
w tr'mrmnll
Ouestions 11-20 21
Case 13
A14-year-old girl presented with a sudden onset of left-sided hemiplegia.
she has been unwellfor 2 da.ys, with headache, tiredness and rethargy.
There is no history of recent infection. she was ,ciagnosed as having a
heaft murmur, but no structural abnormalities havJbeen found
following ECHO and 24-hour EcG. A venous r,um was oiagnor"o.
Iheadache.
Vear ago her mother had a cardiac arrest preceded by severe
she was in a vegetative state wit'h coma anci massive brain
damage. She used to suffei from migraine tfrroujnort t,"', f if". in"
girl's test results are:
On examination Left hemiparesis with left facia[ weakness.
CBP 2a
ESR 50 mmlhour
22 100 Grey Cases in paediatrics for MRCpCH
LP Normal, including serology and oligoclonal band ' S,"cc, *,"rn irr
Clotting/FBC Normal
LFT and NHo, " *; 9r"m tesl
E rm tEE $*4r
blood gases, Ccnlm rgrrlcr
urine AAs and Skrn Em
organic acids I a'fi s ?q -r;g :i
Lactate Normal ! tr'4'tHl -,lik rr"l
(both CSF and blood) : laitm
Normal : i-rfiGmlxg:
MRI/MRA Show right ganglia infarction with evidence of right dllluq'*
posterior artery reducing cal liper ; ;*
1. List four possible causes ' lirynrnH sr.ml
2. List four important investigations I rru*. t:lLg c.nrr.l- St-r:
I &*nr:it-1131"e.!:
Case 14 : &;m*tur@nlng
I *r1g.:|,n*E
A 3-month-ord infant presented with a history of increasing -ril
of stool, up to 10 times/day for the rast 3 weeks. rne stoot is
frequency : ,*:::-Et-t? -r{
and contains mucus most of the time. on one oa.a.ion it
;;;"y * lurr
*"s-mixea - rfl[,Mlr lItsn;naf
with blood" His weight 3 weeks ago was 5.2 kg and it is nowi.d20
He is feedin-g very weil, every 4 hours on the Sreast,
kg.
r,i, *Ifl.,",.
; ir..rarlrumgle r,T
ha.d been told not to give him any dairy products foi "no
z *""[.. rt",.
this treatment, there was stiil no improvement. He has a runn\r
and there is no evidence of chesty cough or oiscorntort.
nose h,15
evidence of soreness on his bottom. HE is the onry chird
r["iJiu ,o j*rrr:;U-IrE 3@r rrc
.;ii
caucasian coupte, with no famirv history of irrnesJ. H; ;;;
oi; ;;;rg t
i"t[ -:r.e'Sj"*rris,tf" ng :*a
i,lrn*
term and had no neonatal problems. ", Tc4mT[ lllir:fiiwe r6Er -E
On examination, he looks happy and is smiling, with scratch
marks
ruwu
-h. .t ffirs r ,[
on his forehead. He has no rasrr on his body. iis auoomen is alTfirrnfl.nmTr(G[fm -Iqf,rr.}g
his chest is clear. His face resembres his mother,s, with
sJtt and fur,.r rm@mtf tG S[rT 15 S
an anii-ous
look. The test results are: i rme 1[ rqarE
-*maf,Irffi tltu ltrf,r.Ilflr: :r
Hb 12.5 gldl IrrU {'i*"rrmu{ilm.. -lru .lr.
WCCs 8.6 x 10s/l (N 50%, L3B%, E 0.4%) tlrrc $r r dl rr trm r{
PLT 160 x 10s/l € .liirnr.g.l,r.aln 1tu lror
Arb 39 s/t f lu 6ln fu Uauscr
Total protein 659/l :i':fflthrlI t f5bt
Ark. Ph re.
234 mmol/l ;ts ffidir l sra qr l@ f" -
Stool x 3 No growth after 5 days nul!ts S .nC Tm{finnru4r
CRP
X;f.:f
0.5 *,a!E EAEI1,[ &:i-,tru6,
ESR 10 mm/hour
Stool
' &Ltr r*CrqB E m 1rr
Negative
for reducing : 1rrgr
substances :3lF -rrr.
: Jtmur fiutrc
1. What other three investigations should be carried out? g agr',lElnGlrtr
a Stool pH Sr;EEre_(
flmE
j Skin test
2. What is the rnost likely diagnosis?
a l-actose milk intolerande
b Golitis
c lnfeaion
rl Food allergy
eCF
f... eongenitat enteropathy
J. What four.steps should yo, tate to manage
a Prednisolone for 3 weeks '- '---"-v' this infant?
b Azathioprine
C Hydrolysed milk products
d Lactose-fnee milk
e Creon
f Weekly weight
o Re-challenge with lactose and biopsy
Case 15
A 3-hour-old baby was found.by a midwife
the paeciatrician. The cyanosis rtrrt"J to be cyanosed; she celied
roon as the baby sraned
feeding but tlrere was no apnoea. r-ris ".
sat in air is 66% and on rOCI%
was 77%" r'{e was born at term and
a oron"t"r uoou"b;*
appoirrtment was reporteo as normar.
but siopped as soon as she tne*
Hi;;;il;;;;';;
"."n "iG iil""i ii."r.,or
ine *is'pregnant. she smokes
between 5 and 10 cioarettes/d ana
aoes n-oi use drugs. she is hepatiris
c-positive and her trio.ottrei chirdr;;;;;
iearthy.
and H,V-negative. The r,vperoxicie"iia-s'carrieo she is hepatitis B-
the sar was stiil in the hith z0;. Hi&p out on the baby but
45 mmHg from the umuiircat art".v
i. z-di+o mmug, with a mean of
*tr.,"# (uAc). purses are difficurt
to feel, even afrer resuscitation.-#;;;'i,;.ilbated
transfer to a specialist.cardiac and ventitated before
gas with a Pcv of 60 fr. The
H"'r aeidotic, on arteriar brood
""nir".
c-XR ;iil;;;;riness of the perihirar area.
There is no murmur but the iirst
was started and a cranial US was
h;;;;;r;; is faint. An i.v. antibiotic
,"poniO normal.
1. What needs to be done immediatelv? ",
a Exchange transfusion - -'---'' '
b cxR
c Arterialline
d Peripheral tine
e Start prostaglandin infusion
, Hart-correction of acidosis by
bicarbonate
g Arrange transfer to specialisi centre
h
i 3l1T l.y.. pntibiotics (cepha tosporins)
t{estr,ct the fluid to 40% of requirement
{or MRCPCH
24 100 Grey Cases in Paediatrics
corrective surgery
diagnosing anO pf anning
echocardiograPhY'
2. V/hat is the abnormality on this X-ray
ease 16,
a history of pr:ssihle seiz"'-
A GF refcrrec! e 3-y*ar-old Eirl wiih looks frightenec
fruj"ioc '*'l.,**'u t*i*'' sh* wakes -up'man going" ]-he-
;;; ;'',ihe '
of four childrer
;J;';;Ji"i[" o' tr'''[ins uo*'''ti' she is one
Ouestions 1?-20 Zs
Case 17
An 8-year-ord girr was.admitted
to hospitar with rectar breeding. This
was described as,fresh btood,;;;;;;;;[ccasions
always after emptvinq rter-bowii:$;;;reated in the past and
her lower GIT colonsiopy. carried for constipation, and
uri fo"rfiv by an adult physician,
was normat. She is not cornplain,ng
ot ant iUO.o*in.f p.I;';;';;",
for I!'IRCPCH
26 100 Grey Cases in Paediatrics
Case 18
A 6-mosrth-old infant presented with jaundice and FTT" He was bonn
at term and there were no ne6natal problems. Fle is breast-fed antJ is
now on solids. He is taking his food without difficulty. At the age of 5
months, he was seen by GPs, when a history of cough and a heart
murmLlr were diagnosed, and he was referred to hospital. Over the
iast 3 days he has become more lethargic, is not interested in his
food, and his colour is changing.
l'{is father has a valvular heart problem, but no sLlrgery was required
and there are no other siblings. There is an ejection systollc rnurmur
on the left side of the chest, mainly loud at the second intercostal
space. The liver is about 4 cm below the right costal margin, with
yellow sclera. Stool colour is normal. His urine is described as 'dark'
by his mother. His father has a long face and there are other
abnormal features on the spinal X-rays {butterfiy vertebrae}.
Hb 11"5 g/dl
WWC 'l1x 10s11 (N 657o)
Pl-T 320 x 10e/l
Eilirubin 265 mmol/l (20% conjugated)
AIk. Ph 660 ruir
ALT 12O IU/I
Alb 32 g/l
yGT 80ltJ/l
CMV lgG Posltive
Caeruloplasmine Normal
Hepatitis B,C,A serology Negative
US of abdornen Large liver vvith normal consistency and
no splenomegaly
1. What are the two most useful investigations that should be
carried out?
a ECG
b cxR
c ECHO
d Liver biopsy
e Hepeat viral serology
f Bone marrolv biopsy
g Muscle biopsy
h White cellenryme
i Urine for organic acids and GAGs
j Blood for AAs
k Urine toxicology
I Transferrin level
2. What is the diagnosis?
a Hurler syndrome
b Hunter syndrome
c Carbohydrate glycosylated protein deficiency syndrome
d Alagille syndrome
e Glycogen storage disease type 1b
28 100 Grey Cases in Paediatrics for MRCPCH
Gase 19
A mother brought her 10-year-old daughter, who has a history c'
frequent cough and a high temperature for the last 6 days. Her c: -
has been getting worse over the last year, in spite of asthma
treatmentlnd courses of antibiotics prescribed by her GP. The c: -
is productive and has been consistent for the last 2 days.
She was borrt f ull term, with no problems in the first 2 years' Or
-
Case 20
A baby was admitted to hospitalwith a history of apnoea and
possible seizures. He was born at term after a prolonged second
stage of labour. The Apgar score was 8 at 1 min and 9 at 5 min.
Mother and baby were discharged home 6 hours later and a health
visitor visited on two occasions. He is now 5 days old and breast-fed.
An hour after admission, the baby's Sat level dropped to 85% and the
-{}urse noticed a twitching of his right leg and arm. This continued for
about 10 min. The baby was transferred to a high-dependency bed
and regular monitoring was carried out. Various blood tpsts were
carried out and the baby was put on benzylpenicillin and gentamicin.
LP revealed no abnormalities. The baby carried on fitting
intermittently and he was given a loading dose of phenobarbitone
and put on maintenance therapy.
The next morning he had another 3-minute seizure, affecting mainly
the right side of his body. The test results are:
NHo 28 mmol/l
Lactate 1.9 mmol/l
30 100 Grey Cases in Paediatrics for MRCPCH
pH 7.35
ffo, 4.2 kPa
HCg3 21
BE 0.01
fr, 8.3 kPa
INR 1.1
Hb 17 gldl
PLT 270 x l9ell
CRP <5
BS 4.5 mmol/l
Mg 0.92 mmol/l
Ca 2.45 mmol/l
MSSU Negative
Urine toxicology Negative
Blood C Negative
1. What is the next single investigation you should carry out
a EEG
b Cranial US
c Cranial CT
C Met*bclic screen
., . ',.
: |t , lt :.. ::rf
r'.ia.,.ir (t..t..rt .l
ffi ffi
a Cerebral sedema
b Subarachnoidhaemorrhage
c Subdura! effusion
ct Srnatl latera[ uentricles
e Eiiated ventrieles
I Attenuati*n and {ow derlsitl, of left parietoternpora! lobe
g Sasal genglia cafaificatior:
Answers 11-20 31
h Brain atrophy
i Shitting of rnidline
3. Wnaiii on! single bedside clinical test that should be carried out
earlier? D
a Measuring blood Pressure
b Fundiexamination
c Repeated BS
d h/leasuring ternPerature
e Oxygen Sat
f ECG
g Testing all reflexes
What are three possible causes?
a Middle cerebral artery infarct
b Birth trauma
c Shaken baby syndrome
d lntercerebral bleed
e Hypoxic ischaemic encephalopathy (HlE)
t Neonatal seizures '
g Accidentaltrauma
ANSWEBS 11.20
Case 11
1. e Weight and height
2. e Perinealexamination
b Upper and lower GIT endoscopy with biopsy
3. c Nbh-caseating granulomatouschanges
e Giant cells
g Transmural inflammation
4. a Crohn's disease
Crohn's disease
This disease can involve any part of the GIT system. There is always
a delay in diagnosis of this iondition as presentation is not
ctraracteristic-but a high index of suspicion is needed. colicky
abdominal pain and d'iarrhoea with or without growth.failure are
f,,ghly indicative of inflammatory boweldisease, and investigations
sfr-suiO be initiated to find the cause. Blood will show iron
deficiency anaemia with a high ESR and CRP in the acute recurrent
phase. Thrombocytosis and hypoalbuminaemia rnay also be
present and are indicative of active illness" An abdominal X-ray
with barium may not be tolerated very well, but it will show skip
lesions and narrowing of the lumen, thickening and fissuring.of the
bowel wall and fistulJformation - all highly indicative of Crohn's
disease. The MRI scan is also very useful and helpful in diagnosis
if barium swallow or endoscopy cannot be carried out. A
tu.ftn"iiu.-labelled leukocyte ican is proving useful in follow'up and
diagnosis but is still in the early stages of development. The
12 i00 Grey Cases in Paediatrics for MRe FCH
Case 12
1. d Third nenve PalsY
2.a ldiopathic
d Lyme disease
b BICH
3.a Fundi examination
b Borrelia antibodies
e Blood film
d Mycoplasma titres
Case 13
1. Basilar artery rnigraine attack
,AV malformation
Cerebral infarct
lnfeetian
r': ,. Antcriat angiograrhy
Protcin level$
ffiNA dmeihte stram#
Th romrbophilis: screert
.&.nswers '11-20 33
l4eadaches in children
Types of headaches
Acute
Acute recurrent
Chronic progressive
Chronie non-progressive
Ciuster headache
Epileptic headache
Psychogenic
fvlixed
skin; chart weight, height and head circumference; listen for :'r
bruits; measure blood pressure and carry out a detailed CNS .
systemic examination (of the optic disc, eye movements, mc::
asymmetry, co,rrdination and reflexes).
There are high-priority patients who may need urgent neuro -
scans, including children with acute headache or chronic prc;
headache wiih abnormal or focal neurological abnormalities. '
papilloedema. Children with neurocutaneous syndromes (NF :
and headache also need urgent neuroimaging. lt is very unus - i
children < 3 years, and this is very significant. Other low-risk ;"
include those with chronic non-progressive headache, mixecj
headache, classic or common migraine, or a variation in heac:
location.
ease ?4
1" b f-{ydrogen breath test
c Lactosequrantitative'Btudy
d Endoscopy and biopsy
2. a Lactose rnilk intolerance
b Colitis
3. c Hydrolysed rnilk products
d Lactose-free rnilk
f Weekly weight Rneasurement
g Re-ehallenge with lactose and biopsy
Casc 15
1. e Start prostagiandin infusion
f Half correction of acidosis by bicarbonate
g Arrange transfer to specialist centre
2. Postductal aortic stenosis
3. c Turner syndrorne
e Fetalalcoholsyndrome
g Down syndrome
36 100 Grey Cases in Paediatrics for MRCPCH
.E^
>.= - . = ;r ;s.
time, and a strong apex beat due ic .,e.:':',l a: l',oer-trophy, are other :--:q- i.l':-;-t
= -^,
features that may aid the clinical c a_.-.s s --e :- :d is acidotic, and
ventilatory support is required as \.,e as (e€p -J:re cjuct open by
prostaglandin infusion. Antibiotic c3re. S.:! c a s: be started, as
well as correction of acidosis rvitr f - 3 a-: 3:;a'a.nate. The team of
specialists should be informed anc a--3rgs':e-:s fortransfer should
start. lf the duct is closed and the baL," s ge:: -g d,ci-se, then a -:-- r c-:l th=-= ..
septostomy can be performed under :C-3 *- :3-.e by a well- - - -i: atF,cr c'-= ^.
trained cardiologist.
f,?-i rr a:eas C'A:.
Early CXR may show pulmonary cess- 3 a-: :"::l c:egaly, and ::-^: :ases in i.r- :"
appearanceof a'Swiss loaf'heart:a- E€ s3E- =: -.ctching occurs in - - lr |-u ..lc-: *
older children who become syriiri:-e: : s::' l- :CG in newborn -:, -e g ic i3:€ se
babies will show right ventrici-;lar i',:ea-::-, !:-:"carciography is -.ff- ^is7=?ai ^- ^
diagnostic and the pressure g.ac :-: 3:'::.s i-i txst::i1ion can be
estimated. Cardiac catheterisar;i^ .- a a-; :.,_:-::- . snould preferably
not be carried out in sick chilo.er a-::.2'3€ ::-e 't:e diagnosis is Use 17
unceftain. Surgical correction an: 33
be used, and balloon dilatation is e*e;i==- =- z'i.::-
:
angioplasty can
:e-:trirdren or in ' e ir':iesira r,t
"E
recoarctation after surgery. e lt4mxe s :.
, Anai sss.e
i rcreasea --E*
Case 16 3 i,iecke.'S s i31
1. a Complex partiai se r:'es
2. c Sleep EEG &iec*el's divrtia.unu
a Cranial MRI -- < 2. Ces f,- _ --,;
T ELb - , YE sJr
-- - t
3. b carbamazepine --- :- ^ j * t--- -
_.1 _,
Ternporal lobe epilepsy - (. := 6- = a-,-- €
EEG
There is an interictar anterior temporar spike focus or
sometimes a
paroxysmaltheta rhythm. An ictar EEG wiil show
a diffuse discharge
on the other side. cranial MRI using an epilepsy protocol wirirrerpio
identify areas of abnormarity in thJhippocampus or temporar robe.
rn
some cases in which surgery is required and the focus oi discharge
could not be determined, a pET scan or ictal and interictar SECT scan
may help to localise the focus of the discharge. Many cases
have
been operated on with temporal lobectomy. and the
outcome has
been very good.
Case'/,7
1. a lntestinal polyps
e Meckel'sdiverticulum
j Anal fissue
2. lncreased uptake
3. Meckel'sdiverticulum
Meckel's diverticulum
This arises frorn the vitelrointestinar duct, which reads
from the
p-rlTili"g gyl t" the yotk sac. tt occur s in i"/o of the poputution iZ in.
long ancl 2 ft. frorn the ireocaecar varvel. The viteiloiniestinar
duct
may cause other abnormarities. rf it remains open, this wiil iead
to
fistulae, or a fibrous cord from the umbilicus tb the ileum
may act as
an axis for localised volvurus or read to bower
obstruction" Meckels
become inftamed and cause bteeding or
fl::Ii"yl-t.nray
tntussusception, or may present as scute appendicitis.lt
usuallv
38 100 Grey Cases in Paediatrics for MRCPCH
of
contains heterotropic gastric mucosa, which is the main cause
in pre.school children. lt
;d;i;g" This is usuaiiy a painles.s.bleeding
of bright maro.on.blood'
i;;.;rlV a large haemorrhage with pas-s^agj by *-Tcpertechnetate iso.tope
fvfu"f,"f;Jr"an i's helpful in diagnosis
affinity for parietal cells. Diverticulectomy is the
icin, whicfr has an
treatment and there is no recurrence'
Case 18
1. c EchocardiograPhY
d Liver biopsY
2. Alagille sYndrome
lntrahepatic biliary hypoplasia (Alagille syndrome)
This is usually inherited as an autosomal dominant syndrome'
fVf oit....r have jaundice from the
neonatal period vrhich disappears
U, .frifOfrood or idutt life; sometimes it can present as pruritis
if," f cholestasis causes pruritis' jaund-ice'.
"lfv. "ngstanding and xa nthe Iasrna. Ons"qu a rter of patients will
f,Vp"r"frof
"stJrolaemiI affecting mainly peripheral pulmonary
nive carOiac abnormalities,
are atypical phenotypic features' whic-h include
urt"iv it"notis. There
forehead
;;;h;i;ri;m, a polnteo noie, deep-set eYes' overhanging
and a straight nose with a small pointed chin' A high serum.
will support the ciiagnosis. There is cirrhosis of the
pruritis,
river"=i"*ilevel
"frof in 15% of cases and'other liver disease in 10%. Treating
nVp"t"f,of"tterolaemia and cholestasis heips to prevent further
pfl"utions in these patients' Cardiac surgery is not always
is. vital.
i"dil"i; but regutar foltow-up with echocardiography.
"6F
prenatal diagnosis has not yet
G;";til corn"etiing is important and i\
been established.
r
Case 19 ll
Bronchieetasis
This is a chronic lung diseases that can follow in{ection and especially
plji-r*.V tuUercut6sis, which has started to appear more frequently
in ,"""nt y"rrs. lt is usually associated with congenital lung
of a
aUnormatities such as bronchomalacia, sequestration, aspiration
i;;"ig; body that is missed, and chronic chesl infection associated
Answers 11-20 39
Case 20
1. c Cranial CT
2.f Attenuation and low density of left parietotemporal lobe
a Cerebral oedema
d Small lateral ventricles
3. b Fundi examination
4. a A right middle cerebral artery infarct
c Shaken baby syndrome
s Accidental trauma
$i
l$l'
#
ffii
r
l
i
40 100 Grey Cases in Paediatrics for MRCPCH
Presentation with weakness and seizure is usually not a good sign. OUESTIONS 21-30
cranial cT with contrast or MRI is very important to demonstrate the
area of infarction and to see if it is associated with any parenchymal Case 21
bleed. US is also v6ry helpful iri the case of a large MCA infarct. The A 10-year-old child p
follow-up may show ventricular dilation or porencephaly contralateral over his legs and arr
to the hemiparesis. Maternal use of cocaine during pregnancy can illness. He was on a
cause infarction. Anticonvulsants are effective in controlling seizures. when he felt sick for
Phenobarbitone is more effective in the earty iays. with a later switch them due to chromo
to other anti-epileptic drugs (AED) in patients wr[h in:ractable pains in the past anc
seizures. Only 20-40% of these patients may neec long-term which responded to
anticonvulsant treatment, and surgery for patirents whh epilepsy and organomegaly. His t
intractable seizures should be considered- results are:
Hb 12.1
WCCs 8.4
PLT 15:
PTT 3ti r
BT 1rr
Film PL'I
1. What is the mos
2. What are three I
5. What is the trea
Case 22
A girl presented whr
feet'and has had po
development was w
previous concems. I
with her gait and is r
conjunctivitis was p
found on systemic a
ESR
Hb
Hb electrophoresb
Ret
Ca
lnorganlc phosphae
Vitamin D
*uESTI0N$ 21-3{)
ease 21
A 1O'year-old child prur"n'tuc with a history of bruising, which spread
over his legs and arms- He is an onry chirci with no taniity history
of
illness. He was on a school trip to the south of ttaiy : welfs ijo,
when he felt sick for 1 day. His morher had four ot
ti'rern due to chromosomai abnorrnarities. He has'-niscarrrigls,iiro
eompiai-ned of leg
pains in the past and recently he was diagncsed as having m;jraine,
w'hich responded to simpre analgesia. Hiis afebrire and tierels no
organomegaiy. His urine shows RBCs and no pus ceils. The test
results are:
Hb 12.5 sldt
WCCs 8.4 x 10s/l
PLT 15 x 10s/l
PTT 38 s (control 35-50 s)
BT 1 rnin (control 3S-00 s)
Film PLT small in size
1. What is the most likely diagnosis?
2. What are three possible causes?
3. What is the treatment?
Case 22
A girl presented who is described by her mother as 'unsteady on her
feet' and has had poo.r weight gain since the age of 3 years. F{er earry
development was within the normal ,ange and-there were no
previous concerns. she is now 6 years old, is stiil having
a fioutem
with her gait and is not able to ride a bicycre. Sornetime-s rrer oiaer
brother has described her as a 'drunken ir,ito'. she was admitted to
hospital 1 year ago with bad chest infection, and was treated with
i.v.
antibiotics and had fruid drained from her rungs. Both parents are
healthy,.although her father had a problem wiih his eyes tfrai
required surgery. Her younger sister is hearthy. rrre tamiry rives in
an
old. house with damp and alailing ceiring" she used to n"'uiigr,t
uno
active, but now is withdrawn and sreepylano not as noi.yi.i"iorr.
she swings when she watks and rras mirteo tremor in her hands. Her
eyes started to turn red in last 3 months and treatment for
conjunctivitis was prescribed by her Gp. No other abnorrnalities were
found on systemic and general examination. The test results aie:
ESR 90 rnm/hour
Hb 7.2 sldt
Hb electrophoresis No haemoglobinopathy
Ret 1.2%
Ca 1.78 mmol/l
lnorganic phosphate 1.97 mmol/l
Vitamin D 10 mmol/l
42 100 Grey Cases in Paediatrics for MRCPCH
a HyPerhYdration
-:*: -t &'l-- i Aplastic anar
b Adienocorticotropr''l: 3. What two other :
c Oral alloPurinol ' a Factor Vlll as
d l.v. antibiotics b Factor X ass;
e Oral hYdrocortisc': c Bone marrc$
f Remove abdo- -3 -::-: d Chromosor'-,
g lnsert urinary ca:-?::' e Platelets ns:r
h Nil Per mouth f von WilleDr:
i l.v. antifungal a9:-: g Bleeding ti: ,
Case24
A 7-year-old boy with a history of recurrent bruising presented to his
lamily doctor. His mother also suffers from recurrent bruises. He was
born at term with no neonatal problems. He had nasal bleeds at the
ages of 5 and 6 years. He cannot play football, as he gets tired and
will suffer from bad bruises. His two older brothers are well and
healthy, as is his father. There are two bruises on his thigh following
his atternpt to climb a tree.'No other abnormalities are found on
systemic or general examination. His mother had a termination
of pregnancy for reason of fetal cardiac abnormalities. The family
owns a horse and the boy looks after it. The boy was referred to
hospital 3 months ago for a 1 x 1 cm cervical lymphadenopathy,
which is still there. The bruises are becoming more frequent and
he feels upset not to be allowed to go swimming with his friend
or play football, as these cause more bruises. His WCC,
haemoglobin level and lymph node biopsy were reported as normal.
There is no rash and a normal MSU. All joints are intact and are not
painful.
1. What other tests should be carried out?
a Blood film
b Bone marrow aspiration
c Chromosomal study
d Bleeding time
e PTT
f INR
g Platelet count
h Liver function test
iPT
2. What is the diagnosis?
a Haemophilia A
b Glens syndrome
c TAR syndrome
d ALL
e von Willebrand disease
f Henoch-Schonleinpurpura
g Ehlers-Danlossyndrome
h Christmas disease
i Aplastic anaemia
3. What two other blood tests should you carry out?
"a Factor Vlll assay
b Factor X assay
c Bone marrow
d Chromosomal study
e Platelets ristocetin aggregation test
t von Willebrand factors assay
g Bleeding time
h Fibrinogen level
44 '100 Grey Cases in Paediatrics for I"iBCPCH
i Plasmaphere
Case 25 j l.v.vitamin K
The following are the blood results from a ?year-old child with k Correct acidc
diarrhoea an-d vomlting that hai continued for the last 12 hours. His
mother suggested tnaf fris stool looks mucousy, with streaks of a
reddish mlxture. He has stopped drinking and eating, and is not Case 26
happy. His HR is 110 b.p.m., RR 40/min and BP 110/60 mmHg' He An 8-year-old girl pres
looks'pale and shut down but his capillary refill is < 2 s centrally. His days and an inability t
mother had a similar illness 2 weeks ago but recovered within 3 days' walked to school that r
His doctor prescribed Dioralyte and analgesia. His urine output is sick, and there have h
minimal. He was admifted to his local hospital for further was on a coach trip to
management. The test results are: developed a very bad
days and was able to r
Blood places, including the E
,Na 125 mmol/l
Now she says she'car
K 5.3 mmol/l
hard on them. The re{l
cl 90 mmol/l
upgoing. She is not re
Urea 21 mmol/l
the suprapubic region
Cr 230 mmol/l
the upper limbs and o
HCOs 14
as she has not passed
Urine (cerebrospinal fluid IC
Na 10
Osmolality 700 mosmolil wcc
Blood culture Negative Protein
MSU Negative Glucose
Abdominal US No abnormalities Gram stain
c/s
1. What other investigatrons shculd be carried out to help in PCR, HSV/polio/TB/M
diagnosis and management? Enterovirus
aHb lgG oligoclonalantibr
b INR SpinalX-ray
c PTT
dPT 1. What is the most
e Blood film a Spinalcord c
f Platelet count b Syringomyet,
g LFT c Acute transfl
h NH4 dMS
i Abdominal CT e Guillain-Ban
j rvP f Occlusive va
2.
k Blood gas
Whut it the'diagnosis. iudging frorn the blood test?
sh Spinal
uTl
shoct
? Wf,i"ft four step-s should torn ' tne iniiial management of this child' 2. What are the otlx
and in what order? a Spinalfi
a Fluid restriction to 300 rirl i'n: of sur{ace area b SpinalMRl
b l.v. antibiotics c Spinal and cr
c Urinary output to be added to total ffuid d CranialMRl
d -hourly U&E e Peripheral ne
e Transfer to sPecialised unit f DNA double r
Flasrnapheresis
Lv. vitamin K
Correct acidos!s
Case 26
An 8-year'old glrl presented whh
a history of back pain for the iast 7
an,inabitity to watk ;" ir," ir_ia iJurs (sr,e
::^y:jj-dio schooi
,'v,ixec! was ail right *nd
thar ;-norning). She had ,irild f"o"n
siek' and there have be-en no u"C
ot',u, sy*ptoms in the rest 24"ril""ri"g
hour.s. she
\,'as on a coach t'io to France
with her s.f,oof 2 wee*i ;"g; ,;; "
a very bad cotd on *," u.roi;;;y.
I:::l?r:o
+ays and was abre to do- most or tr'. She recovered within 2
places, inciudinq the Eiffert*;;;i;;;t.'iH"re with the schoor to various
"i$iiig are no other concerns.
Now she says s6e,can,t feeihe-r
t;;;;';;r;;hen
ha'd on them' The refiexes in'i";l;;;;;i;bs her mother presses
upgoing' she is not responding are brisk and rhe prantar
to pain oiiou.r, in her rower rimbs up to
region.,Arr .irnLl n!-*eu"urJ
lF
the :Yptuqybic
upper limbs and other system. inrr., and examination of
as she has not passed^an-y
,**"r.
i. Hen uraJoer-i. prlp'iiu,
urine- in
'ri rrrY r*i'ig
ti," resr hours. The test'resurts are
(cerebrospinalfluid "
ICSFji:
wcc
Protein 50 (all lymphoefies)
1.2 9/l
Glucose
Gram stain 2.8 mmolll (serum 5.6 rnrnolll)
c/s No organism
PCB, HSV/p otiotT Negative
BI M ycopt asma/
Enterovirus
lgG oligoclonal antibodies All negative
Spinal X-ray Not found
Normal
1. What is the most likely diagnosis?
!b Syringomyelia
lOinalcordcompressi6n
c. Acute transverse myelitis
dMS
e Guillain-Ba116syndrome
f Occlusire ,ascuia, disease
S UTI
_ .t
2.
Spinalshock syndrome
What are the other most useful
investigations?
a SpinatCT r
b SpinatMRt
c. Spinaland cranial MRI
d CraniatMRl
e Peripheral nerve conduction
f study
DNA double strand
s Cerebral angiogiaphy
h tsone marrow biopsy
46 100 Grey Cases in Paediatrics for l"='-- -'
i Et\4G Gase 28
j Urinary VMA"
3. What is the immediate treatmen:7 The following CSF rer
a High-dose pulses o{ methylp:31- s: .- 1 --' to A&E with a mild te
followeci b$ oral corticoste!'c,ls ':- i ,'.=' . seizures. His mother
b High dase of oral prednisois::':' : ' =.'= days ago for tonsilliti
C IVIU appetite improved bu
d Plasmapheresis time to time without
e Surgical cord decomPressi:- was still drowsy. His
f lntensivephysiotheraPy b.p.m., RR 22lmin, an
g Bladder catheterisation care His mother said he sr
each year, and had oi
past at age 6 months
Case 27 seizures, and 5 mg re
A7-year-old girl presentedwith a l's::-. -' - carried out. He maint
hair as well as pubic hair. Her mo':r:' : :.' :: ward after he was sta
of 13years. in the lastfew days she s:=:::': results are:
sickness with abdominal pain. Her
",=
;-: : -: WCCs 120 i
her height on the 75th centile; her' -::-:- : n Protein 200
ceniile. Her pubic hair is stage T3, ar ?'. :'.
I
Glucose 1.1 r
stage 1. She has never had any vaJ - Serum glucose 5.1 r
mother and spends 2 weekends pe- * Gram stain Negi
married and has iwo children w'i:- - . RBCs 0
wakes up ei night, cornpiaining c' a:
nrother, telling i:er about her nig-:- 1. What abnormalhi
yor.,th ciub and finds it difficult tc :-
;hanEing room. Her" GP assurei ':- - :--.
w*rry about when he saw her io: :-= '
the oubic hair. Mcst of the tirre : : - =- ' :l
se hooi. as her mother works as a '- .' - .
a re:
Testnsierone l.0nmol/l
Cariisol 22C nrnolil
TSi'i v.v mUli
'14 pmol/l
Free ti-rvroxine
FSt-: 21.2ull (follic-:-:
'--.1 ?C,,!t
L, u, l {fnll ..
\tvlll9v =-'-
9
esse 28
The following CSF resuits are fronn a 3-year-old boy who presented
to A&E with a mild temperature and generarised tonic-cronit
seizures. His mother is a 6urse and siirted hirn on a*orvciiiin +
days ago for tonsillitis. He kept on having a mild temperature; his
appetite improved but he was stiil retharlic and keptl.ving t.o*
time to tirne without a reason. His seizuri stopped'afteis irin but he
was still drowsy. His temperature in casualty'was 36.4"c, his HR 150
P_tp.m., HR 2Zimin, and Sat 9g% on 5 l/min oxygen via a facemask.
His mother said he suffers from tonsiiritis quiiioftun, up t" a ti*".
each year, and had one bout of left upper lobe pneumonia in tne
past at age 6 months. He started having generalised tonic-cronic
seizures, and 5 mg rectal diazepam wal iiven and a cranial CT was
carried out. He maintained his airway anl *as transferred to the
ward after he was started on antibioiics and acyclovir. His cSF test
results are:
WCCs 120 (60% tymphocytes)
Protein 200 gll
Glucose 1.1 mmol/l
Serum glucose 5.1 mmol/l
Gram stain Negative
RBCs 0
1. What abnormalities are visible on his cranial CT?
a Cerebral oedema
b Middle cerebral artery infarct
c Subarachnoid haemorrhage
d lncrease in subdural space
e No abnormalities on both scans
f Basal ganglia infarction
I Absent corpus callosum
48 100 Grey Cases in Paediatrics for MRCPCH
d HIV test
e Herpes simplex PCR on CSF Case 30
f CSF PCR for Staphylococcus, Streptococcus and Neisseria A 14-year-old b<
g EEG
enlarged cervici
h MRlscan
tonic-clonic sei:
3. What is the diagnosis?
headache. Therr
episode when h
extraction. Bloo
Case 29
electrolytes, an<
A S-month-old baby presented with a history of recurrent chest hyperpigmenter
infections for the last 4 weeks. He has not gained weight for the last 4 He is also weari
weeks (his weight is on the 3rd centile and his bir-thweight was on the by an ophthalm
25th centile). There is no diarrhoea or vomiting. He had three CXRs carried out privi
and was reported to have hyperinflated lungs. He has just started were normal.
solids, which he likes. He looks puffy, pale and thin' He is hypotonic 1. What is the
and has stopped smiling. His abdomen is soft and a mild wheeze was
discovered during a chest examination. There is no family history of
a Reflex i
chest or gut problems and his parents are not reiated. This is their
b Vasova
first baby and there were no neonatal problems. He has fed very well
c Panic a'
from the first day of life and passed meconium in the first 18 hours
d ldiopatl
after birth" He is anaemic and a sweat test showed Na of 46 mmol/l
e Hyperki
(N = 20-60 mmol/l) of reasonable sweat. There are no other concerns f ldiopatl
and both parents are heatthy. There is no family history of any
g Tics
illnesses. The lgs, stool for reducing substances. ptatelet count and
urine culture were all reported as normal'
ANSWERS 21-3
1. What are the four differential diagnoses, and in what order would
you list them?
Case 21
a Lactose intolerance
b Gast(o-esoPhageal reflux (GOR) 1. ldiopathic tl
c Tracheo-oesoPhagealfistulae 2. ldiopathic
d Cystic fibrosis' Viral infectir
e Schwachman sYndrome Autoimmur
f Protein cows' milk intolerance 3. Supportive
g Autoimmune deficiencY sYndrome
h Congenitalcystic lung disease Thrombocytope
i CongenitalenteroPathy This is an autoir
2. Which othei three tests should be carried o.r"i? Neonatal throrn
a Sweattest with hydrofludrocor-t.sc:'le s{.,lppression retardation (lUG
b Hydrogen breath test maternal haemc
c lgG subclasses (HELLP) syndror
d Bronchoscopy and lavage (thrombocytope
e HIV test syndrome; neor
f pH study usually idiopath
g Chest CT tissue disorders
h Barium swallow
Answers 2l-30 49
Case 30
A 14-year-o,O Our,.l"1blsod
*=nlarged cervicai'lympf., taken by his Gp for investigarion
-H"ii"n*O
gf rnds. of
to n ic-cr o n ic seiz having gene_ralisec
i,ssdache. There
u res i **"a to, e-# r',' ioi cwe o b y
"ni"r"i*.'ii,t'tu epitepsy
is:i-o_rr*i;ii"irtorylt
and he harr
;*L11f-H.B,l5E :l:lo:o "' i""i" i L Jpo, ntmenr ror a to orh a s!mitar
.. -
s *:i:;!,
ffiii'*.,*rlT#il,"#,l#"{#,'a;
r-le rs aiso wearinc flrt x
c y an r,i l"j' iJ.,
oph r h, i * ; rr"
g
i :.. :;; i". i i'r? Ho.,t l';#X,:i,rJ#]:,
;*ss":*ri,T.1l,1i:T;L'",[11il_i:*:.u:[{::{mitu,
l. What is the rnost likely
diagnosis?
a - -
Reflex anoxic r"i.rr"r-
b Vasovagal attack
c panic attack
d ldiopathic generalised
seizure
e Hyperkeplexia
r ldiopathic focal epitepsy
g Tics
ANSWERS 21.30
Aase Z,l
thrornbocvtopenia purpura
;. l3[B:|il: *rp)
Virai infection
Autoimmune/drugs
,
r. supportive with 169ular
foliow_up
TFrrornbocytopenla
in cFrildren
This is an autoimmune
disease that affect
thr.ombocyropenia at any ase.
I:^":_*, is associareof,lll,I::
g;ffifi***figutfi"rl*n;
t is s u e ir ;.
"ii"
i. [ ;: L iX;,' H;: ;",,,", I #:|,3 f l.g. j n r".ti o-n,'"f ,in
Tv.adenovirus, i u -
".t "
8.,_,ifolate
50 100 Grey Cases in Paediatrics for MRCPC*
f Abdon':inal -:
very important. This disease will perslsl {:' -:'3 :-3- 5 years in :. Ft--{yr:clonic eilcei -
fewerthan 5% of affected individuals a^: s: :-e:::-; ls not
:
c Sral alle ,. - - :
in patients with lTP. r. Tra'sfc; .: .-:
Case 22
1. Ataxiatelangiectasia
2. lg
Celtular DNA
Chromosomes
CranialMRl
3. Malignancies(lymPhomas)
Bone marrow failure
Ataxia telangiectasia
This is a multisystem disorder afJec: -; :-: ::-:"3 ^3-'"ous system
{CNS) and immune system. lt can ce i'a- s- ::: :-': -gr autosomal
recessive inheritance. The genetic i:-3-r i- - as :::- ::ated on the
long arm of chromosome 11' The :'a- ':s::: :- :i- ::gin as early
as t-he first year of life, with ataxia. l-: :- : -s-; " lresents with
clurnsiness and frequent falls, whl:* :e: =-= =':;':ssive.
sometimes this may be accompan:ec :, :-:' :a:-e:trtic movement'
Oculomotor apraxia is present in 9C'. l' :3: e-:s a^: can be early'
lntellectual development witl be nc f :'- 3 - :3 " ' ': : -t will decline
slowly as the child grows up. Telang 83"'as : 's-! r oevelops in
years 2-4 of life and sometimes ei i'€ a3€ :' 'I : a;oears as a
-
btoodshot bulbar conjunctiva. h aisc a3:€3"s : :-3 rcper part of
the ears, on the flexoi surface of iir.:s B- : as : : -:e:f1y distributiOn
on the face. Frequent lung lnfectio- :3- :-'e-' s?' :'s' and
Answers 21-30 51
Case 23
'1. j Urinary vanillylmandelic acid
d Abdorninal and chest CT
f Abdorninal mass biopsy
2. Myoclonic encephalopathy (neuroblastoma syndrome)
a e Oral hydrocortisone
c Oral allopurinol
k Transfer to specialised oncology unit
$!'!yoclonic encepha!opathy {neuroblastoma syndrome}
This is characterised by chaotic eye rflovements (dancing eye
syndr*rne), myoclonic ataxia and encephalopathy. it rnay occur
idiopathically or secondary to occult neurobiastoma. The outcome
is usr.raily the san"re, whatever the mode of presentation. lt can
present at any tirne from 6 rnonths to 6 years of age. Clumsiness
or abn*rrnal eye nrovement is usuaily the first presentation. which
rnayiake a week or lcnger before being brought to the attention of
a medical professiona!. tdore than half will present with irritabillty
*nd behavioural changes that incicate encephalopathy. Threre is a
spontanBoi:s, conjr-rgated, irregular ierking of the eyes in aXl
directions, v.rhicfi is ralieci opsoclonus. This eye movemeni
persists during sleep and is'rnore severe when the chilcl is agitated
-['he
or tired. diagnosis ean be rnade based on clinical L:ackground,
and louk!ng for tlre c&use is Important" Looking for urinary
honrovanlliic acid and vanillylmandelie acid is very important, as
is k4lBG scan or"! bone marrow to stage the neuroblastoma. A CT
or fiRl *f ti'le chest anrd abdonren, looking for the occuit
neurobias{offra, can be carried out. Hither ACTH or oral
cortieosteroids provide pat"tial or cornplete reiief of syrnptoms In
E0% of patiet'lts, inciuding those wlth neuroblastoma. Partial or
cornplete.rerrrission sf the neurological syndrome may occur
regardiess of whether neuroblasto:,:a is present. lf a
neuroblastoma is present, i? sho, 'e removed.
52 100 Grey Cases in Paediatrics for MRCPCH
i
Answers 21-30 53
Case 26
t. c Acute transverse myelitis
2.c Spinal and cranial MRI
e Peripheral nerve conduction study
3.a High dose of methylprednisolone until recovery, followed by
oral corticosteroids for 6 weeks
f lntensive physiotherapy
s Bladder catheterisation ca re
-iiiiFis#5 u
o
tr
,i
TNr-t cr+o o
I\f o
g$i iD
=Jl
+9 C
i
=
6'99;
(D!x
e =*E o
$it
; g 5;i i [$
iirtffiii
tii* $$g#iis; +E F
Hry
r$1:Fnail3+=
q
(o
o
9
o
a
f
o
=
:.
(-1
o
:D
C)
C)
*$ii$$rg$li{iFEii -
i$ ii$ iiiEigiF$#iF
;: iEi 3r'igrg$3ra'*$grg
r .J.;* -* f Es=5
f,; i=fr ;6 iuif*igfif,;flFifl
X
:;3 *i59ris
m-a
f
f -.-^"
?-3-
a ar 0):.-.'. d
+(oE It
lornG)r--oc)
H z€ oH gx
sl3,iiil.
+ UD v \t
slii*ary#ffff;gff$ :1
d'o'z
.<- ur- o
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s
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atrr
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Cht^ +
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ut
56 100 Grey Cases in Paediatrics for MRCPCH
relative who is a known case should raise clinical suspicion. A 100 mg OUESTIONS 31-40
quantity of sweat is no longer required in places where the
macroduct system is used as opposed to the older methods, in which Case 31
evaporation led to falsely elevated sweat electrolyte levels. Sweat A 1O-year-old boy p
testing can be performed in babies who are > 48 hours old. There is a behaviour at school
normal rarge of sweat sodium of < 40 mmol/l; the test will need to be anaemia, which wa
repeated if the sweat Na result is between 40 and 60 mmol/|, and if > child in the family; r
60 mmol/|, the diagnosis is CF. The diagnosis of CF should be based is withdrawn and dr
on the result of Wvo sweat tests, not one. A false-positive sweat test 'violent child' by hir
can be associated with dermatitis/eczema, coeliac disease, untreated months, and has be
hypothyroidism, malnutrition, and flucloxacillin use. A CF diagnosis behaviour. Sometin
should always be made on the basis of high clinical suspicion' His eyes were checl
his local optometris
Case 30 showed papilloeder
in another country i
1. a Reflex anoxic seizures had arguments allt
The boy's mother h
Anoxic seizures sorted out. He threE
These are due to cortical hypoxic failure of energy metabolism as a first floor window, r
result of anoxia and hypoxia. They may follow bradycardia < 40 his iron tablets and
b.p.m., tachycardia > 150 b.p.m., asystole > 60 s, or systolic BP night shouting and
< 50 mmHg. Cortical hypoxia results in loss of consciousness and resolved by analge:
postural hypotonia. Anoxic seizures can be due to several and makes no eye c
mechanisms, which include breathhoiding, obstructive apnoea, back. He wants to g
Valsalva manoeuvre, cardiac diseases, fainting attacks and brain All aspects of the s1
compression. Reflex ahoxic seizures result from emotional stimuli, or are intact but he do
stress, minor pain or irljury. This is actually a syncope attack followed fundi examination s
by seizure. lt is usually described as the patient going pale, with eyes His BP is 120f5 mn
that may be deviated, and the pulse slow. ln some cases true epileptic results are:
attacks occur, induced by hypoxia' Many of these attacks have an
abrupt onset and tonic clonic movement and the patient becomes Hb 8'l
rigid. Postictal confusion is common and can be familial, as in MCV 45
visovagal syncope. Reassurance is usually what should be offered, MCHC 25
as well as investigation if the history suggests that this is necessary' PLT 35
BS 4.a
Urine Pr-i
1. ls his abdomir:
so, what are ih:
a Normal
b Shows ei'ii
c Abnorrna
After admission. l-e
normal. After mi:-
seizures for 5 mir-. .r
relative who is a known case should raise clinical suspicion. A 100 mg OUESTIONS 31-4O
quantity of sweat is no longer required in places where the
macroduct svstem is used as opposed to the older methods, in which Case 31
evaporation ied to falsely elevated sweat electrolyte levels. Sweat A 10-year-old boy I
testing can be performed in babies who are > 48 hours old. There is a behaviour at schoo
normil ra:rge of sweat sodium of < 40 mmol/l; the test will need to be anaemia, which wa
repeated if ihe sweat Na result is between 40 and 60 mmol/1, and if > child in the family;
60 mmol/l, the diagnosis is CF. The diagnosis of CF should be based is withdrawn and d
on the result of two sweat tests, not one' A false-positive sweat test 'violent child' by hir
can be associated with dermatitis/eczema, coeliac disease, untreated months, and has br
hypothyroidism, malnutrition, and flucloxacillin use. A CF diagnosis behaviour. Sometir
should always be made on the basis of high clinical suspicion. His eyes were chec
his local optometril
Case 30 showed papilloede
in another country
1. a Beflex anoxic seizures had arguments alll
The boy's mother h
Anoxic seizures sorted out. He threi
These are due to cortical hypoxic failure of energy metabolism as a first floor window,'
result of anoxia and hypoxia. They may follow bradycardia < 40 his iron tablets and
b.p.m., tachycardia > 150 b.p.m., asystole > 60 s, or systolic BP night shouting and
< b0 mmHg. Cortical hypoxia results in loss of consciousness and resolved by analge
postural hypotonia. Anoxic seizures can be due to several and makes no eye (
1. ls his abdomin;
so, what 3rB ih:
a Normal
b Shows er,;:
c Abnorma,
After admission. n:
normal. After m:d-
seizures for 5 min" i
diazepam. There lrr
urgently, which els:
His behaviour fl;:_
having encephal: .
rg OUESTIONS 31-40
)h Case 31 r '
Case 32
A 6-month'old infant
poor feeding for the I
the spleen is tiPPed" I
there is no consangu
and there is no famil'
suffering from recurr
found for his probler
protuberant abdorne
on the l0th centile.
Hb
WCC
(b) PLT
Atk. Alk. PhPh
YGT
ALT
2. What single test should be carried out? Atb
a AbdominalUS Total protein
b IVP Bilirubin
c cystoscopy Conjugated bilirubir
d Ferritin level
e Lead level PT
f VMA Urine
g Barium swallow Stool
h Urine toxicology Alpha-fetoprotein
iLP 1. Which {our invc
j Ammonia level order?
k Mantoux test a Blood gas
3. Which other two investigations should be carried out? b Hepatitis B
a Btood film c Hepatitis C
b Urinary coPPer level d EBV serc':
c Long-bone X-raY e Human im'
d AbdominalCT f Abdomina
e CSF for HSV PCR g Bone ma"
f Repeat EEG h Blood fi!"
4. What is the diagnosis?
Questions 31-40 59
He was treated and 6,,neeks later anotl'ler blood test $/as taken, which
showed that he still had the sarne problern, even though there had
been some improvement in- his behaviour and he had attended
schosl in the preceding 2 v{eeks.
5. What should the management plan be?
a Admit to hospital until he finishes the course of treatment
b Contact the Environrnental Health Officer
c Refer to psychiatrist
d lnforrn social services and child protection team
e Start treatment again with strict supervision by a community
care team
Case 32
A 6-month-old infant girl presented with a history of iaundice and
poor feeding for the last 15 days" The liver measurement is 3 crn and
the spleen is tipped. Both parents are refugees from Kosovo, and
there is no consanguinity. An older sibling, aged 3 years, is healthy,
and there is no family history of such an illness. The father is
suffering from recurrent renal calculi. No metabolic cause could be
found for his problern. The girl is also hypotonic, with a large,
protuberant abdomen. She is passing normal stool and her weight is
on the 1oth centile.
Hb 10.3 g/dl
WCC 16 x 10s/l
PLT 90 x'l0s/l
Alk. Alk. PhPh 200 mmol/l
yGT 300 mmol/l
ALT 18O IU/I
Arb zotul
Total protein 60 g/l
Bilirubin 200 pmol/l
Conjugated bilirubin 80 pmol/l
PTT 140 s
PT 90s
Urine Glucosuria, protein ++, and aminoaciduria
Stool Normal in colour
Alpha-fetoprotein High
1. Which four investigations should be carried out and in which
order?
a Blood gas
b Hepatitis B serology
c Hepatitis C serology
d EBV serology
e Human immune deficiency virus (HlV) antibodies
f Abdominal US
g Bone marrow aspiration
h Biood film
60 100 Grey Cases in Paediatrics for MRCpCH
i Liver biopsy
j Caeruloplasmin level
2. Which two abnormalities appear on the wrist X-ray and photo?
All serology came back as negative and she was given FFp and
vitamin K. She fias referred'to a metabolic team for further testing
and they suggested some tests to be carried out locally.
3. Which order of other investigations may help the diagnosis?
a Corrected calcium
b Phosphorus
c Vitamin D level
d Chromosomes
e AAs
f Liver biopsy
g White cell enzyme
h Bone marrow aspiration
i Urine for organic acids
j Parathyroid hormone level
4. What is the diagnosis?
Case 33
An 11-year-old girl u,i
She lives with her far
home several years a
The girlattends a ma
about her behaviour ,
PTT 33 s
ll I iq
BT :.s
INR .a
Hb '3:
Ouestions 3l-40 61
Case 33
An 11-year-ord qirr was referred
She tives with hlr frrl:;!;g
to A&E irrtt., . history of haematuria.
home severar years ago and
t*,;:;;il siblings. Her mother teft
trre ta,rer "clre. to," a, of the chirdren.
I he girt atrends a
mai-nstrea;
about her behaviour wi*r
,;n;;i;il'n", teacher is worried
oiheicilir;;;;,
them and is usins abusive tg";;;;';'r,"L"nt. ,r she is not mixing with
schoor and hates pE and,"iri*10i""s to run awav from
ma.nages the after-sch,ool
i"-r.onr. The mare sporis teacher
club ,"Aifri"[J'she would be good
swrmmer. Her father a
q pr.t ti.n" i"[ at a tocalchip shop
never works at night. {g".
Ttre giit was ;;;; ;; a psychiatrisr and
occasrons after concern on a few
was express*O a6out her running
home, which is now settrins away from
probrem and attends H;;E;;EIorotn", has a tLarning
the sJme examination by her G-p
showed no evidence or oigrro;-;nJr,?,i",
".noor-"e'n fissure
or vatvovaginitis.
A urine dipstick is crear.a,nd.a
hospital 2 weeks aso
curture is negative. she was admitted
to
1ii1 IOOL-i""r o"iI)*rr,.,, resotved and she
was sent home with no,arrangement
were inforrned and a letter for Social services
was sent io her ".follo*_up.
Gp.
PTT
34s
TTl 1s
3T ?tr-
-i-
13 g/di
62 100 Grey Cases in Paediatrics for MRCPCH
Case 34
A 4-day-old baby boy presented with ryanosis and shock. The Sat level
was zo% in 10 l/min oxygen via a facemask. He was born vaginally at
term and there were no [roblems in the first 3 days. Now he is not
interested in his food and in the last 12 hours has begun to breathe
h;;riry. There is no history of apnoea and he vomited once this
parents' bed and the temperature Consolidar
-orning. He sleeps in his cot by his
a
out"iOe'is below b.C. His antenatalscan shows no abnormalities and b Consolidat
two otner siblings are healthy. His RR is around 15/min and his HR is c Hyperinfla
iOO U.p.rn. His t6mperature, taken centrally- is 34qC; his BP is d Bronchial
(CRT) centrally of 4 s. Heis
uniecorOaUte, with a capillary refill time e Collapse o
,""ttr"o, cold'and sleepy. Hiswvin sister is very well and healthy. The f No abnorr
U"Oyi ,"tt er is a policewoman and his father is self-employed, and The baby was tranr
*rr'"titt ai work when the baby was brought to hospital. An i.v. cannula back and show:
*r" ini"n"O and blood was sent for analysis. The blood glucose level
*.i i.Z mmol/|, which was confirmed by laboratory results' TSH
T4
Blood glucose 1.2 mmol/l MSU
CRP 59 Nitrite N
U&E'S Normal
LFT's Normal "
All blood, urine. a.
Blood count showed neutroPhilia for herpes, aden:,
Ouestions 3t-40 63
Arterial gas
pH 7.22
EO, 5.1 kpa
rc2 4.5 kpa
cur
BCH03 14
Be -17
1. Which four urgent steps should be carried out?
a lnnmediate intubation and ventilation
b 1O-ml/kg of 0.9% NaCl given intravenously
c CXR
d Start i.v. antibiotics (benzylpenicillin and gentamicin)
t level
iy at
j'.
ne
the baby was taken off the ventilator, but still is not well. He was
e ECG
f Urine toxicolo,
Jiignor'"0 as hiving sepsis and treated for 7 days with i.v' antibiotics' g Abdominal US
3. What are two other possible causes? h Urinary VMA
a Sepsis 2. What abnormalitY
b Hypothyroidism
c Chest infection
d Metabolic disorder
A Hypothermia
I Complex heart lesions
g lmmune deficiencY disorders
h Encephalitis
i Meningitis
j CF
k NAI rq
*1
Case 35
A girl aged 12 years presented to A&E with a history of frequent
fre"aOacfies. The headaches usually occur during the daytime and
i*rF
1
1,
been in the uK for only 9 months. Both parents live in Somalia. There
i, preuious history of illness. she is not taking any.medication and
i
her^ogiandmother is healthy. There is.no history of a high temperature
or w-eight loss. Her headaches occasionally improve-with.
prn"."i"*ol. The examination reveals no abnormalities, including
iundi. Various blood tests were carried out and the results are:
Hb 13.4 g/dl
WWC 6.8 x 10e/l (N 42%, L46%\
PLT 555 x 10e/1
CRP <5
ESR 21 mm/hour
LFT and U&Es Within normal range a Dilated lateri
she was admitted for observation as she has been feeling sick since b Dilated third
the morning. Lv. fluids were started, she slept atl night a-nd o.nly c Dilated fourt
required an-algesia by lunchtime the next morning. she is still not d Lateral ventr
drinking, the 'r.v. fluids have been stopped and she planned to go e Posterior fcs
h;;; uli tne early evening. Her headache got worse overnight and f Brainstem'tt
she did not sleep'throughlhe night, even after having been given g Cerebral oe:
inr"" tvp". of analgesii. The next morning, she is very weak and h Parieto-ten ;
can,t open her eyei or lift herself up. Her fundi are normal apart from i lnternal cap:
Uirrila hatf of ihe disc margin on the left. Her BP is 110/60 mmHg, j Hypothalam
"HR 80 b.p.m., and BR 20/min. k Pontine infa
I lnterventricr
1. which three other investigations should be carried out and in 3. Which three pro
what order? diagnosis and ir
a CXR
b CranialCT
Ouestions 3i-40 65
c Viral serology
nd d EEG
e ECG
;
rd
g, falls,
:d has
. There
:n and
3 ratu re
jtng
a Dilatedlateralventricles
. srnce b Dilated third ventricle
.I c Dilated fourth ventricle
not d Lateral ventricular mass
Eo e Posterior fossa mass
: and f Brainstem tumour
ven g Cerebral oedema
:nd h Parieto-temporalattenuation
rl from i lnternal capsule infarct
nmHg, j Hypothalamic infarct
k Pontine infarct
rd in I lnterventricular shunt in situ
J. Which three procedures should be carried out to confirm the
diagnosis and in what order would you place them?
66 100 Grey Cases in Paediatrics for MRCPCH
he started having ::
p${ ffiOr{kPa} Iror{kP*) HCOr(kPa} Be and bradycardic :c
changes in arteria
Cord gas 6.88S 1?.4 4.0 I -19
Age 30 rnin {Vi 7.CI1 7.23 6.2 13 -t I 5. What shoulc ":
Age 120 min {A} 7.24 6.CI1 7.3 tb -10 a Reintuba:=
Age 3 hours {Ai a, 9.9 16 -2 b Relcad v' :-
Age I hours (A ) I .'Jt+ 4.5 10.'r 15 a
-1
e Give:ra -::
dLP
Ouestions 3140 67
of 120 rnin?
1. What should be done at the age
a Reintubate
b CXR
I Hrif ootrection of acidosis by bicarbonate
d Craniai US
e Start nitrous oxide (HFo)
; Si;H t,ign+requencv oscillation
t tn"r"r.E to 7o and P to-26i5
RR
X ti'trAg ot o'9v.' Naclover 30 min
U'lv;.r. iil 3 hours and all other gas
2. wt v-it ,nii cO, r"'"i-ttirr high at age of
normal Parameters?
a LowRR
b Low lT
c LowPEEP
d SePsis
e RDS
f From correction with bicarbonate
o Pneumothorax
f, Btocked tube
of seizures and was given
a
The baby started having various tvpes
i;;;i"s e;;; o1pnenodarbitone of 20 ms/ks'
3. What is this record called?
baby
l0
fetal
rate.
j I{, .i
rf< iI t[ :].
i;
sky.
,,i.+a{; dz
:{
,*;***.q-fr$ lf, -'-,, ,1,,ii,,,' , ,. rr.i:
ias
':gd
#fort.
P 45,
4. ls it normal or abnormai?
18 tror'rrs' a head US scan was
J rhe The baby was extubated at the age of
oeelema' and 2 hotrrs later
taken, which shows gl*i'fituO ferebral
he startecl having -pffiil;';;-**"u'
D*t'tut"ted to 40% of tuo'
to fit' There were no
Be ;;i;;;;t;rdic"to'oo-zo ul*ini heorcontinued
oxvgenation requirement'
il;;gJsi;;rterial gis ana rrnap'
-19 your managernent plan be at this stage?
-11 5. What should
-10
a Beintubate
-2 b Reload with Phenobarbitone with pf'enobarbltone
-2 c Give *ainte[anc" t'"ut*unt
dLP
68 100 Grey Cases in Paediatrics for MRCPCH
Normal K 4.2 m
U&E U 3.8mr
MSU < l0leukocytes and no organisms
LT 44 mr
in order?
1. what are the,most likely three differential diagnoses ALT 38 lU,
a APPendicitis APH 126 rt
b Crohn's disease Atb 32 gll
c lntestinaltuberculosis Glu 5.3 m
d lleocaecal abscess Lactate 2.1 m
e APPendicular mass NHo 40 mr
f Perforated aPPendix Venous gas at 10.00 p.
g Ulcerative colitis
in pH 7.38
2. ivhi"r, two invesiigations will help to reach the diagnosis' ffo, 2.4k1
order?
a lmmediate ESR
rc2 8.4 kg
K 4.2 mmol/l
U 3.8mmol/l
Cr 44 mmol/l
ALT 38 tun
APH 126 tu/t
Alb 32 sll
Glu 5.3 mmolil
Lactate 2.1 mmol/l
NHo 40 mmol/l
Venous gas at 10.00 p.m.
pH 7.38 pH 7.40 at 10.00 a.m.
ffiO. 2.4 kpa EO, 4.5 kpa
rc2 8.4 kpa rc2 9.6 kpa
HCO3 14 HCO3 16
Be -13 Be -0.3
Urine organic acid Normal
Serum AA Normal
Urine for reducing substances Normal
Cranial CT No abnormalities
Ketonuria Negative
1. What is the possible diagnobis?
a Benign neonatal familial convulsion
rha b Benign infantile convulsion
f his c Benign myoclonic epilepsy of infancy
1, and d lnfantile spasms
e Myoclonic astatic epilepsy
f Myoclonicencephalopathy
; his 2. Which other tests may help the diagnosis?
on his a Cranial MRI
b Repeat sleep EEG
,JI c Video telemetry
d Nothing
e Repeat metabolic screen
3. What treatment should be given?
a:k. a Vigabatrin
JI
b Sodium valproate
;v in c Lamotrigine
d Nothing
and e Phenytoin
e and
te is Case 40
An infant aged 11 months presented with a history of FTT. He is on
results solids and SMA Gold, up to a quantity of 600 ml/day. He likes boiled
rice and pasta. He is not suffering from diarrhoea and has no rash.
His father works long hours as a cook in a local lndian restaurant and
his mother is a housewife. The whole family of nine live in a three-
bedroomed terraced house. one of his oldbr siblings was diagnosed
with juvenile chronic arthritis (JCA), and is on treatment and
72 100 Grey Cases in Paediatrics for MRCPCH
responding very well. His sister, who is 11 years old, started her 3. a Blood fitm
period 2 months ago and has been diagnosed as having mild c Long-bone X-re
anaemia. The parents are struggling to pay their mortgage. 4. Lead poisoning
His weight is 5.9 kg (on the 10th centile), his height is 84 cm (on the
5. b Contact the Enr
25th centile) and his OFC is 45.6 cm (on the 50th centile).
e Start treatment
community car
No abnormalities are found upon systemic examination, but his nails
are brittle and a pansystolic murmur can be heard on the left sternal Chronic lead poisoning
border. Other test results are: This can occur after che,
Hb 4.3 s/ot windows or doors. Leac
WCC 7.9 x 10s/l(N 45%, L 55%, E 1.3%) fishing, and old water pi
PLT M5 x l}sll southeast Asia and the s
PCV 35 fl using Surma, an eye ma
Ret 1.4% a compulsive eating dis(
MCHC 19 g/dl diagnosed as having iro
MCV 56 fI to respond and the clinir
Serum ferritin 'l be anaemic, complain o.
rBc 30% behavioural problems ai
performance. Those w,iti
1. What are the three most likely diagnoses in order?
convulsions, irritabil ity a
a Thalassaemia major and death. The lead leve
b Thalassaemia minor hypoch romic, m icrocyt' :
c JCA
bone X-ray may shorv ie
d lron-deficiencyanaemia
long bones, and some:;-
e Spherocytosis
ray. Lead poisoning is or
f Lead poisoning
pressure, and papilloecs
g Coeliac disease
affected environment as
h Crohn's disease
Officer is very impor-ier:
i Ulcerative colitis
penicillamine in mild cas
j Cows' milk intolerance (EDTA) in severe cases
2. What would you expect to see on the blood film, in order?
giving dimercaprol as a-
a Spherocytes
b Microcytosis
c Elliptocytosis
d Anisocytosis Case 32.
e Target cells 1. f Abdominat US
f Basophilic stippling b Hepatitis B sero
g Howell-Jolly bodies c Hepatitis C sero
h Sideroblastic red cells Blood film
i Hypochromic red cells 2. On X-ray - cuppir-;
j Spindle-shaped red cells ostecDi
On photo - rachiti:
3. a Calcium
b Phosphorus
ANSWERS 31-40 c Vitamin D level
j Parathyroid ho.r
Case 31 e AAs
h Bone marrow aj
1. c Normal f Liver biopsy
2. e Lead level 4. Tyrosinaemia
Answers 31-40 13
Case 32.
1. f Abdominat US
b Hepatitis B serology
9 Hepatitis C serology
Blood film
2. On X-ray - cupping, widening and flaring of epiphysis
osteopenia
On photo - rachitic rosary
3. a Calcium
b Phosphorus
c Vitamin D level
j Parathyroid hormone level
e AAs
h Bone marrow agpiration
f Liver biopsy
4. Tyrosinaemia
74 100 Grey Cases in Paediatrics for MRCPCFT
acquaintances or sitra
always be a high degr
Tyrosinaemia cases in children. Eac
dealing with children
This is one of the tyrosine metabolic disorders: tyrosinaemia type 1, guidelines as well. ln
Wiosini"11ia tfpe 2, alkapttrnuria, and others. Tyrosinaemia leads to should be sought, as
;;6h ;i;ila ievet'of tyiosine. tn rype l,lhere The
wi1 be hepatocellular
affected person usually including the psychiar
ar,,.'igE, ;"uking in Fanconi syndrome.
are very important.
oi"."iti with FTi, profound rickets, thrombocytopenia andmay an
occur.
SUnormat clotting disorder. Hypertrophic cardiomyopathy Reference: Kempe X.
There is an increised risk of l'repatic carcinoma in patients who problem. The 1977 C.
.r*ir" t" adulthood. As a result there will be abnormal liver and 382-9.
fi.i"irv tl"&ion, with a prolonged PT that will not respond to vitamin
'i. are usually high. The
ih; pf"",,u tyrosine and methionine levels
Case34
."** itpt level is very high and there is generalised
"+etbprotein
no""iAutia and tyrosyl u ria. Gamma-a minolevulinic acid excretion 1. a lmmediate int
"rni
G increased. Neonates with hepatitis or older children with a family b Give i.v. 10 m
t i.to.v of tyrosinaemia should be screened for this condition, d Start i.v. antit
espe"faf fV ii there is hepatocellular dama.ge. Confirrnation is by h Echocardioori
;il;;j55ay in cuttured fibroblasts. A diet low in phenylalanine and 2. f No abnormlti
tyrosine is imponant in these patients, but liver transplant surgery 3. b Hypothyroidis
iiu". ifi" only chance of survival in severe cases. NTBC is effective in a Sepsis
ieversing liver damage by reducing the level of succinylacetone to
normal. Hypothyroidism
This is the commones
Case 33 problem worldwide, a
Complete absence of t
1. S CSA., endemic hypothyroidir
a UTI cases but can be famil
d Threadworms causes of thyroid dysh
b Valvovaginitis responsiveness and fa
2.c Carry out a FME (urgentlY)
iodide organisation an
b Refer to Social Services
syndrome. Not allthyr
s Refer to child protection team
loss of thyroid tissue, i
enlarged. TSH deficier
Child sexualabuse abnormalities is a rare
Child sexual abuse was defined (Kempe 1978, p' 382) as the features of hypothyroi
inuofu"rn"nt of dependent, developmentally immature children and tongue, hoarse cry, far
adolescents in sexual acts that they do not fully consent to, that they mottling, cold hands a
,i" not able to give informed consent for, or that violate the social with time. There are nr
taboos of family roles. A history of child sexual abuse is not hypothyroidism, inctuc
,n"orn*on among the general population, and the figu!9 is as high gestation longer than r
;;ab% in girls anJ tSy"ln boys. Females on average suffer sexual o{ stool, respiratory distrr
;b;;";ig;ificantly more often than males. The most common type large anterior fontanei,
sexuat in males and females is fondling of the genital areas' should be done at I v,.t
"6u.umost common form of sexual abuse of males involves
The second mother's thyroid slatur
in" p"*or*ance of oral sex, while abuse of females may vary from diagnosis can be confir
removal of clothing to direct genital contact. There is a strong TSH of > 20 mUfl. Mea,
association between physicaiand sexual abuse. One-third of scan will help to localis
pf,Vri"if fV abused cfritdren may be.sex.ually abused and 12-15% of neck will help to confir
le>iuarrv auused children may be physically abused. The main
p"tputtrtot" of sexual abuse of girls and boys are males who are
Ans,wers 31-40 75
Hypothyroidism
This is the commonest treatabre cause
problem worrdwide, a.nd is.most tr"qr""tivof mentar retardation. rt is a
due to iooin" Jeici"n.v.
complete absence of.thyroid t;ssue L t-rre commonest
endem ic hypothyroidl?T .-Il" aetio.t o9y cause of non_
iemains unt nown in-rn"ny
cases but can be famiriar and associatli
with oo*n rvnJio,,".'ort.,,
causes of thyroid dysh.ormonogenesis inciude
a oecrease in rin
responsiveness and failure to c-oncentr"t"
iooiou- ft," ot
iodide organisation and-sensorinuul"i Jltness "."."i.iion
pendred
is cailed
syndrome. N.ot allthyroid. dyshormono!"neri,
is associated with a
loss of thyroid tissue, and in ,o."
tr"ryroid gland will be
""rl"rlhe
enlarged. TSH deficiency due to pituirary or hypothalamic
abnormalities is a rare cause oilivpotr,v'ro-idisir.
rvranv ciassic
features.of hypothyroidism are n,iit*iO-in
and newborns. A large
tongue, hoarse cry, facial puffiness, umUiticat
: they hernia, hvpoio-nia,
mottling, cold hands an_d ieet,.ana.ietnrigv are
;ia I
with time. There are non-specific
subtle.'"Jrpp"",
may suggest
hypothyroidism, incruding'uncon;uiateJ'rrvperoirirubinaemia,
"ignr1l.,1i
high gestation longer than 42 weeks, cier"ayeo passage a
ual of rneconiu-mino
stool, respiratory distress, severe infection, teeiing
Vpe of large anterior fontaneile. Neonatai r.rl"ning
oiffi"riii"., i"o ,
:as. tor tripottrv;"iJiJ;
should be done at 1 week oj age ,=-"rtti"i't"sting
ves rnay refrect the
mother's thyroid status and giie a tatie-negative
'rom result. The
diagnosis can be confirmed 6v, c*"r"use-ii prasm;i;'";;;
TSI'I of > 20 mU/r. Measurement rise in
of 13 is of littre varue. A radionucride
scan will herp to rocarise and measurl the
tof size otir," glundl'tiiit tt
neck wil! hetp to confirm the absence
;; thvroid liano. i[ir"io "
rfe
"i
76 100 Grey Cases in Paediatrics for MRCPCH
as.base-line cortisol' GH' LH and
antibodies should be tested, as well h.v. 10 ml/tg of 0.996
thvroxine (L-T/. should staT-11soon
;$i:-R$t;"."nt theiapv withGenetic 2. f, h CO2 high from ac
i, counseiling is important and 3. Cerebral function mo
as the diagnosis
""nnIri.,"J.
the prognosis is exce!!ent' 4. Abnormal. There is e'
5. b Reload with pher
c Maintenance witl
Case 35 g Repeat cranial Ul
1. b Cranial CT 6. MAC|
a CXR Bright basal ganglia
f Urine toxicologY lnternal capsule invol
2. a Dilated lateral ventricles 7. 10-15% chance of no
3. c Cranial MRI e Speech problem
e Mantoux test
as PCR for
CSf for cult]u're and sensitivity as well Neonatal seizures
" MYcobacterium
4. e Tubercular meningitis Neonatal seizures are po(
distinguish from normal i
Tubercular meningitis or hemispheres. The pos
the leading causes of death in abnormality. Seizures are
Tubercular meningitis remains one of tuberculosis has been desaturation and an incre
children. The numbe, oi"ur". of
pulmonary
cases occur in areas where help to diagnose neonata
increasing in ,ecent-yelrs, and more
first in the lungs and then diagnose neonatal seizur
sanitation is poor. iuUercutosis occurs months' The symptoms same time recording any
6
spreads to the rn"ning"t, which.may-take The presenting in newborns is usually w'
are insidious ano maii"[e months to apDear'
be a high degree of suspicion the newborn is clinically
symptoms .r" u"ri"i'bJi'tt"t" trt""ro
othLr patientsvrrith TB or
in children wno nail ;;;i; contact with The seizure patterns in n
areas. Most often low-grade
who have travetteit niir,iv'""o"mic irritability' which is
include:
followei by listlessness and
fever is present,
commonest feature; it is e Apnoea with tonic s:
mainly due to r,""0."Ju. n,j.a..r," is the
o Focal clonic movem(
progressive nliijilui;i;J bt analsesia. vomiting and abdominal o
vomiting Multifocalclonic lim
pain may o""no,."o"]ril;ffii;thiJ condftion' Headache andlater' o Myoclonic jerks
increase in trequenlv irt" signs of meningitis.appear
"no in 3o-40o/o. of cases. Seizures may appear o Paroxysmal laughirr
i"i"Ui"f intarciions occur is established' The level of o Tonic deviation of :.
early, but usuallv ;";;i;; utt"i *eningism s Tonic stiffening of ;ts
focal neu rological deficit'
consciousnes, oeJr-i nJs-irogi;s.irerv,-*ith
and tremiparesis may follow' and The differential diagnosi
Papilloedem",
death occu* it "runi,inJ'iJparnies
noi'il""t"o fn" cause of hydrocephalus is the for treatable causes is r:
"Iifv. the choroid plexus due to
;;;;ili"" ot ausoipiion of CS'F bv r,ijn of protein in the cSF'
viral), electrolyte imbaiar
deposits ot intectJi"m"il,iii""al "ont"nt
inborn errors of metaco.
and predominant
The csF witt stroil wcc or 100-250 cells/m2 protein levels' AFB may abnormalities, familiar ^
lymphocytes witn'tlw'gluctse and very
high
'd" tubercular Stopping the seizures
d"t".t"O in tkre CSriut a culture will diagnose
s
and
;oon h.v. 10 ml/kg of 0.9% NaCl over 30 min
? i h COr.high from acidosis
lnd
r. LereDrat function monitorinocorrectio;
(CFM)
or blocked ETT
4. Abnormal. There is evidencj of seizure activity
5. b Reload with phenobarbitone
c Maintenance with phenobarbitone
g Repeat cranial US
6. MAC|
Bright basalganglia
lnternal capsule involvement
7. 10-15% chance of normal development
e Speech problem
Neonata! seizures
Neonatal seizures are poorry organised and difficurt to recognise
and
distinguish from normar activityl Thev may arise from the blainstem
or hemispheres. The possibirity of sei:urei increases witrr uriin
a'th in a.bnormality. Seizures are usually acccmpanied by a cfrange
in Hn,
.'een desaturation and an increase in systolic UttoO pressure. fEC
may
'e help to diagnose neonatar seizures. Video tere,.netry is the
blst way to
diagnose neonatal seizures: marking the evenis on video and
at the
)lOmS i n q.a nv E E G a b n oim a ities. The
:_. T: -19 :-r-"9-ord I epi ieptif o rm activity
rn newDorns is usually widespread and can be detected
even when
cicion ihe newborn is clinically asymptomatic.
rB or
The seizure patterns in newborns appear in different forms,
rade which
include:
rls
it is . Apnoea with tonic stiffening of the body
Jcminal o Focal clonic movements of one or both rin-,bs on both sides
nniting o Multifocal clonic limb movernents
o Myoclonic jerks
rDpear o Paroxysmal laughing
r level of o Tonic deviation of the eyes, upward or .ne side
I Ceficit. e Tonic stiffening of the body 'o
ow, and
is the The differential diagnosis of neonatal seizures is varied, but looking
for treatable causes is very important. Rule out infection (bacterial
I or
thE CSF. viral), electrolyte imbalance, lVH, cerebral haemorrhage, drujs,
tnt inborn errors of metaborism, HrE, cerebrar dysgenesiJand otlrer
brain
IFB may abnormalities, familial neonatal seizures, and TS.
eningitis.
llopping the seizures is important. but this depends on the cause.
The adrninistration of phenobarbitone or phenytoin as an infusion
)ntation. will help.to stop seizures. lt is very important to give maintenance
therapy by administering these diugs'via i.v. can-nura and measuring
levels to achieve an effeitive dose" [rewborns who do not respono
phenobarbitone or phenytoin will require ventilation, to
and a
clonazepam infusion will help to stop seizure activity. Muscle twitches
can be stopped most of the tinne, uui abnormal Urain activity wiit
continue and subsequentry wilr either stop or. evorve into another
78 100 Grey Cases in Paediatrics for MRCPCH
type of seizure with a different type of brain activity. Finding the pain is usually periur-
cluse is very important, as treatment with anticonvulsants v'/ill child will have a coale
;;;;rJ on finding the cause and treating this if it is treatable. The not be able to walk ur
prognosis also d"epends on the cause' onto the table for exa.
and rebound phenom
iliac fossa. No singie c
Case 37
appendicitis; they can
1. c Glandular fever (infectious mononucieosis) There should always i
2. d lgM for EBV not be delayed as the
perforated appendix. .
Glandular fever {infectious mononuc!eosis} appendix with surrou.
appendicular mass ca
Thisisadiseaseofolderchildrenandyoungadults.andanalmost disease and terminal
iOenti"at clinical picture can be caused by CMV and Toxoplasma include mesenteric ac
iindii.The initial presentation is usually not much different from ovarian cyst, Meckel's
if,-ui oiu["tv other URTI. lt is characterised by fever, sore throat.and pneumonia, Henoch-S
;;l;rS"J iervicat tyrnphadenopathy..lt is associated with exudative with cell crisis.
tonsil'iitis. There are many cornplications that may be associated
ifri. rir.i i"tection, I ncl udin g aseptic meningitis, tra nsverse myelitis,
g"ff't palsy and Guillain*Ba116 syndrome' Myocarditis' Case 39
"na
;;[;;;d"ly lnd a ruptured spleen are other complications' and 1. c Benign myo:
oltients s[ould be warned against doing any contact sports if there 2. b Repeat slee;
i. .pf .no*"galy. Frolonged illnesses may cause fatigue, lethargy 3. d Nothing
und fr"qr*niabsence from sehool. The Paul*Bunnelltest is a
,uui".tir" test and the antiboclies rnay tske 2-3 weeks to develop. Benign myoclonic epil
inl.p".iti. EBV lgrvl antibody test is more readily available and is
used io indicate current infeciion. The blood film will show atypical This condition is ve-,
,no"o.G.. There is no specific treatment and general advice for rnonths and 3 years :
pain and temperature should be given. children with chronic fatigue generalised fliyoc,-- - .
and lethargy should be helped at school and home' A repeatedseveralt -=.
multidiscifli nary tea* inctuding a psychologist, physiotherapist and wake up. The jerks ,..
p""Ji"tii.irn should ,r.,cili tigeiher to help the chiicj as rveli as the and can be felt. Tn: l:
family involved' spikes or polyspik:s :
usually idiopathic.'. :
cases, unless it ca _: ,
Case 38 = -
case drugs may he l
1. e Appendicular mass for this condition t: ;:
b Crohn's disease affect the developr ='
d lleocaecal abscess
2. d l-listopathology of the surgical mass Case 40
c Mantoux test
1. d lron-deficj=-:
Appendicitis h Crohn's d s==,
Thisisaverycommonconditioninwhichdiagnosiscanbevery
g Coeliac dis=:..
Oi*icrft, if in doubt surgery is advised. An emergency surgical
2. b Microcytos s
as it lift untreateci, the appendix mav perforate
i Hypochrcr- :
;;;;;* "ndis needed, of an d Anisocytos .
and cause many problems, or may cause thc developrnent
rnay resernble crol'ln's disease- This is still a
appendicular mass that lron-deficiency anaer
with a significant rate of.mortality and morbidity' lt usually
.iriiOition
pi"u"nt, with abdJminal pain, fever and vomiting. The abdominal This rs one of the r: - -
.at
I
B
x
q
.1
:
Answers 3'l-40 79
Case 39
and
:here 1. c Benign myoclonic epilepsy of infancy
,l'gY 2. b Repeat sleep EEG
3. d Nothing
llop.
nd is Benign rnyoclonic epilepsy of infancy
yprcal This condition is very-rare and occurs in
for infants between the ages of 4
rnonths and 3 years. As. the child falls asteep
f atigue generalised myoclonic jerks of tne timoi
an,i within f O_SO"min,
wiii r,-cur, *r-,i.r,-.n-.v'u"
repeated severar times. rt wiil not affect
rrst and sreeo ;. cause the chird to
wake up' The jerks wi, not stop if ror."o"L rr
s the rrds the chird,s hand
and can be felt. The EEG is usually normal,
i:.
spikes o.r.polyspikes during tfre iniericrai r-,u.
.,.,uy ,f,o* g"nJratised
f This condition is
usually idiopathic. No further tests or ,r*"-t,,,,
are required in most
cases, unless it causes problems or anxiety
case drugs may help. The prognosis is vei, g
rn ,e tamiiv, anO in this
.rd and it'i. u"rv r.r"
for this condition to deverop tJ gL;"."rilud
affect the development of the cfita.- -"-'- tonic-cronic seizures or
Case 40
. d
'l
lron-deficiencyanaemia
h Crohn's disease
r€ry g Coeliac disease
r:gical 2. b Microcytosis
rcrforate i Hypochromic red cells
an d Anisocytosis
is still a
usually lron-deficiency anaemia
n'rinal This rs one of the commonest types of anaemia,
affecting chirdren in
r-
t
80 100 Grey Cases in Paediatrics for MRCPCH
inner cities more than in rural areas. Poor nutrition and diet play a OUESTIONS 41-50
large part in causing this in children. Poverty and social problems are
cofactors, when healthy food is not affordable. other causes of iron- Case 41
deficiency anadmia are impaired iron absorption and excessive loss A mother brought her 4
of iron due to bleeding. lnfestation with worms is one of the febrile. He was seen 2 vr
commonest causes of iron-deficiency anaemia worldwide. Chronic was diagnosed as sebor
blood loss from the gut due to inflammation secondary to delivery (FTND) and has
inflammatory bowel disease or chronic infection will lead to iron- He is the first child born
deficiency anaemia. Any chronic blood loss from any part of the body history of illness. He wa
will lead to iron-deficiency anaemia. The affected child will look pale carried out. Two hours i
and tired, and this will affect their performance in school. Looking for seizures in his left arm.
a cause is important. Dietary intake and nutritional history for all
three times. He was giv,
family members is very important. When iron supplementation is continued to have focal
started for treatment of iron-deficiency anaemia secondary to dose of phenobarbitone
insufficient dietary intake, allfamily members should receive the tonic-clonic seizures an
supplement, and support from the dietitian, health visitor and if further m6nagement. Hr
necessary a social worker is needed. Oral treatment is the starting
seizures. The test result
point of treatment, and if there is poor compliance and no other
cause can be found, i.v. treatment should be considered, although Na 134 mr
this is rarely needed. Recovery is usually very good, especially for K 4.3 mn
children attending school. U 4.1 mn
Ca LM m
Mg 0.99 m
Glu 5.8 mn
Bilirubin 42 ymt
Urine pH 6
RAS Negati
ALT 24lU1
Arb 38 g,4
CRP <5
ESR <2mn
MSU Negati
Stool No grc
CXR Norrn a
Cranial CT No abr
Hb 14.2 g
wcc 17.2 x
PLT 459 >r ''l
PTT 39s
TT 1s
lNR 1.3
csF
wcc 100 (7:
RBC 15
Protein 0.99 g'
Glu 2.4 mn
No organism
Serum glu 4.5 mn
NH. 28 rn rr
OUESTIONS 41-50
Case 41
csF
WCC 100 (75% lymphocytes)
RBC 15
Protein 0.99 g/l
Glu 2.4 mmolil
No organism
Serum glu q.5 mmoi/l
NH, 28 mmolll
82 100 Grey Cases in Paediatrics for MRCPCH
e Aciclovir F4-C4
c4-P4 *e
f Metronidazole PLOa aal**
g Rifampicin fP2'F8 .-
h Streptomycin F&TIO *-,-
++
i Ganciclovir TIGPS
Pt-oz #
3. Which other two tests should the laboratory carry out on the FPI-F3 €
sample of CSF? F3-C3 +
a PCR for viruses (HSV, EBV, adenovirus) c3-P3
Fp2-F4
F444
c4-P4
P4-Oz
Fp2-F8
FE.TIO
TIGPS
Pr-o:
he Fpl-F3 &,".-,"*^e.-^^.,
\ *&+)-
c3-P3
P3.o:
vv"-..
"-rw-_y-r,4wL lr --'x-*.-
fpl-F7
r7-T9
T9.F7
v,oz
.ECG
f Vigabatrin c Ventilate
g Clonazepam d Give antibiotic
h Clobazam e Give antiviral r
f Urine for toxic
g Transfer to ITL
Case 48 h Ask for help
i Send blood fo
A S-year-old child presented with a history of diarrhoea and and safe
vomiting in the last 3 days. His vomiting is less frequent now but his
diarrhoea is getting worse and his mother described nis stiot-- The girlwas resuscitat
form as'runny and smelly'. He had the same symptoms 3 months transferred to the liver
ago, which resolved within 3 days and no cause was found on stool list for a liver transplar
culture. He is not interested in any food other than sweets -
upper limbs. The test t
biscuits. He has been complaining of a sharp pain in ttre iislt-itiac
"na '
fossa, which lasts for 1-2 hours and then disappears. He w-as- Hb 7.2g,1
swimm_ing in the sea 2 weeks ago with his brot'her and father. Tne WWC 4.3 x
upppr Glr endoscopy and biopsy show partial villous utropr,r. tn" PLT 120 x
coeliac screen and test for lactose milk intolerance were n"g"tir". INR 6
Other test results are: PTT > 100
Hb 7s PT >30:
slat ALT 32011
WCC 15.6 x 10Yl (N 6.3, L 3.0, E
ALP 2250
PLT 425 x 10e/l
CRP 20
Atb 16 s/'
Na 126 r
ESR 2 mm/hour
LFT K 5.3 n
Normal
Ca 1.88
Abdominal US Normal
Mg 0.66
Stool A lot of mucus and blood
MSU 15 white cells only and C/S no growth
2. What are the diff€
1. What is the most likely diagnosis? a Renal failure
2. Which other three tests should be carried out? b Septicaemia
c lntoxication
d Hepatic failur
Case tl4 e Metabolic dis
f Hepatitis
on. her 13th birthday, a girl presented to A&E with a history of a
reduced level of consciousness and lethargy. she was ort uti diy with
g Encephalopa
her mother, and after she returned homg. ihe fert ,n*"rl-*unl to
h Heavy meta!
sleep and her mother found her difficuli to rouse. she has been
3. Which other thra
order?
unwell in the past few rnonths, with abdominal pain that wai a Blood cuhurt
diagnosed-as constipation. she rooks pare and skinny. Her aunt oied
of hepatic failure at the age of 44 years. There is no consang;inity.
b Urine toxicoi
c CRP
Her sister is 7 years old, fit and well apart from one vaginalLleed last
week. The girl responds to pain but does not open her-eyes.-HLr
d Urinary copp
serum glucose level is 2"4 mmolll and her Bp is 6s/s0 mmHq. Her
e Caeruloplasr
f Blood gas
temperature is 36.8"c, her HR is 110/min and capillary refiil [ime (cRT) g Viral serolog
is 4 s centrally. hLP
1. What should be the initial management of this case? i Abdomir:at I
a Resuscitation fluid j Cranial h'i
b Secure airway k Liver bic:s.'
Questions 41-50 85
c Ventilate
d Give antibiotics
e Give intiviral agent
f Urine for tgxicology
g Transfer to ITU
I h Ask for help
; i Send blood for FBC, U&E, LFT, clotting, culture, blood group
-.
and safe
lbut his
I The girt was reeuscitated and the blood results came back. She was
Fnths transferred to the liver unit, ventilated for 7 days and put on a waiting
pt stool list for a liver transplant. She developed abnormal movement in her
id upper limbs. The test results are:
I iliac
i Hb 7.2sldt
pThe wwc 4.3 x 10e/l
pt. The PLT 120 x 1Oe/l
Iive. INR 6
PTT >100s
PT >30s
ALT 320 tu/|
ALP 2250 rUtl
Alb 16 slt
Na 126 mmol/l
K 5.3 mmol/l
Ca 1.88 mmol/l
Mg 0.66 mmol/l
Case 46
A 7-year-old boy presente
gain and a large spleen. I
life to correct biliary atres
was discharged from foltt
has been well since, apar
hospital with jaundice at t
various blood tests and a
Case 45 apart from a raised ALT k
A father accompanied his 14-year-old daughter to a children's outpatient
was considered to be not
feeling unwell, with letha
departrnent and she was seen by a GP. She had a UTl, was feeling
pain and headaches. His,
teti-rargic and had double vision. She was referred to hospitalfor a
found that he had a large
seconl opinion. She always feels tired, especially at weekends and at the
referred for an abdomina
end of the day. she was well before and has no previous history of eye
problems. Her family has no history of eye problems. she plays hockey from a large spleen. Whe
lethargic, pale and said h
at scnool and is also a keen cyclist. Her family lives in a four-bedroomed
house, with one cat" Both parents are teachers and she has two brothers,
appetite is reduced and h
measures about 4 cm bel
who are healthy. She looks tired, has both eyes half-closed and she finds
edges and is mildly tendr
it difficutt to open her eyes; she has to tilt her head backward to be able
to look to someone. Her eye movement is intact her pupils react equally abdominal LIS showed a
measuring 3 cm below tl
and she has no problem with her visualfield. Her fundi are very easily
The test results are:
visualised and tirere is no evidence of papiltoedema' Her other cranial
nerves are all intact. She said she feels weak in her body but her reflexes Hb 8.2 gldt
are all present; she can lift her arms and tegs against gravity, with normal wcc 2.'l x 1G
tone. She feels stronger in her lower limbs than in her upper limbs. She PLT 100 x 10
was admitted to hos[ital for further testing, and in the evening she Na 135 mrn
choked on her food and found it difficult to breathe. she was given 10 K 4.2 mm<
umin oxygen via a facernask. which helped a little. By midnight she was Atb 26 gn
intubated ind transferred to the PICU. Her CXR was normal and blood Total protein 5s gn
gas testing showed respiratory acidosis._Her EEG and cranial MRI with ALT 166 tU i
Iontrast siowed no abnormalities. An LP carried out in the PICU was YGT 150 lu t
reported to be normal. Lactate, ammonia, AAs and organic acids were Bilirubin 20 pmol
reported to be normal. She continued on a ventilator for 7 days and INR 1.3
made a good recovery with treatment. PTT 55s
1. What is the most likely diagnosis?
PT 12s
HBsA Negativ
a Viralencephalitis
HBsAg Negativ
b ADEM
Questions 41-50 87 -
c lntoxication
d Myasthenia gravis
e Myotonic dystrophy
f Dermatdmyositis
g Myeloencephalitis
h lnborn error of metabolism
i Midbrain astrocytoma
j Meningitis
k Guillain-Barr6syndrome
2. Which three investigations are required to prove your diagnosis?
Case 46
A 7-year-old boy presented with a history of malaise, poor weight
gain and a large spleen. He had an operation in the first 5 weeks of
life to correct biliary atresia. The operation was successful and he
was discharged from follow-up at the age of 2 years, fit and well. He
has been well since, apart from viral infections and one admission to
hospital with jaundice at the age of 4, which resolved completely;
various blood tests and abdominal US showed no abnormalities
apart from a raised ALT level, which at that time was ignored as it
'e. s outpatient was considered to be not siEnificant. ln the past 6 weeks he has been
as'eeling feeling unwell, with lethargy, non-specific muscle pain, abdominal
::a for a pain and headaches. His doctor examined him 2 weeks ago and
re^is and atthe found that he had a large spleen and distended abdomen. He was
- s:cry of eye referred for an abdominal X-ray, whrch did not show anything apart
E E ays hockey from a large spleen. When he was seen in the clinic, he was
:-r-iedr6.med lethargic, pale and said his energy is gone. He sleeps a lot, his
€:s trvo brothers, appetite is reduced and he has started losing weight. His spleen
e: =rd she finds measures about 4 cm below the left costal margin, with smooth
herc to be able edges and is mildly tender, and there is no organomegaly. An
) s 'eact equally abdominal uS showed a spleen measuring 5-6 cm, a liver
i:e uery easily measuring 3 cm below the costal margin and polycystic kidneys.
' :l. er cranial The test results are:
i-r: her reflexes Hb 8.2 slOt
*':. with normal WCC 2.1x10sll (N 60%)
rce'iimbs. She PLT 100 x 10s/l
rE^ 19 She
.,,es given 10
Na 135 mmol/l
' :- ght she was K 4.2 mmol/l
Alb 26 g/l
-: and blood Total protein 55 g/l
:- : MRlwith ALT 166IU/I
:-: )!CU was TGT 1501U/l
- : a:ids rtrere Bilirubin 20 pmol/l
'- ::ys and rNR 1.3
PTT 5h s
PT '!2 s
HBsA t{egative
HBsAg Negative
88 100 Grey Cases in Paediatrics for MRCpCH
HBC Negative
h Acute porphyrir
What are the four rr
Blood film Target cells
out?
AIK. Ph 360 ru/r
ANA " Negative'
a Urinary copper
b Urinary coprop
1. What is the most likely diagnosis? c Lead level
2. Which other two tests should be carried out? d Midnight cortis
J. What is the prognosis? e Urinary hydrox
f Blood gas
Case 47
g Hepatitis B and
h Renal US
An 11-year-cid boy presented to A&E with a history of diarrhoea and i GFB
vomiting in the last 24 hours. He was at schoolthe day before and j Serum AAs
was sent horne, as he felt unwell and had abdominal pain. He said he k Lactate level
has been feeling unwell for the last 4 weeks, with generalised I Urine toxicolog
weakness and lethargy. His friends commented that his skin is m Short Synacthe
suntanned, even though he has not been on holiday for the last n Abdominal MR
2 years. He was a FTND. He had viral meningitis when he was 7 years What should the mi
old but recovered well. His father was diagnosed as having irrita'ble a l.v. antibiotics
bowel syndrome 3 years ago. His mother has chronic asthma. His b Daily glucocort
younger brother and sister are healthy. He likes dogs and was c Daily mineralo<
promised a dog if he passed his GCSE exams. d Haemodialysis
He looks darker than his brother, his BP is 9565 mmHg, and his HB gO
e Detoxication w
b,p.m.There is no evidence of skin lesions and his abdomen is
f Liver transplan
generally tender but soft, with active bowel sounds. The test results are:
g Renal transplar
h Full endocrine
Na '128 mmol/l i Cranial MRI
K 6.2 mmol/l
Ur 12.2 mmolll
Cr 77 mmol/l Case 48
ALT 38IU/ A mother brought her c
ArK. Ph l2s tufl hours to A&E, with abd
Alb 27 gll stool in the last 2 day,s.
Hb 9.8 g/At illness. She was sent h(
WCC 7.3 x 10s/l (N 10%, L 80%) not dehydrated and d3{
PLT 180 x 10s/l presented with simiiar
MSU Ketones positive abdominal pain, mala.s
I
h Acute porphyries
2' what are the four most significant tests that shourd be carried
out?
a
lJ,rinarV copper
,
b Urinary coproporphyrin.
c Lead level
d Midnight cortisol level
e Urinary hydroxyprogesterone or steroid level
f Blood gas
g Hepatitis B and C serology
h Renal US
and i GFR
E j Serum AAi
Fh"
k Lactate level
I Urine toxicology
I
r
m Short Synacthen test
t
n Abdominal MRI
Fars
3. What should the management plan be in three steps?
t a l.v. antibiotics
i.: b Daily glucocorticoid
c Daily mineralocorticosteroid replacement therapy
d Haemodialysis
h
e Detoxication with DTA
0 f Liver transplant
I
g Renal transplant
)ie: h Full endocrine work-up
l i CranialMRl
lr
F Case 48
;.
F A mother-b^rought her daughter for the second time in the last
24
hours to A&E, with abdominal pain and frequent passing
E of a soft
lE, stool in the last 2 days. The 4-year-old was tit ano werr u"etore is
it
[* illness. she was sent home after she was assessed at hospitit;
'' stre is
F not dehydrated and does not rook septic. Two days ratei sie -
presented with similar symptoms: headache, tethargy,
h
F"
more
abdominalpain, malaise and a pain in her neck. Heimothersaid
her
lt- is going up every day, and today reacheA +O;C to, ine
lI PTqgratrlg
Trrsl trme. 5he also developed erythematous papular
1',
t lesions, which
measure about 2 mm in diameter. A{l members'of her
h*
healthy and returned from a Mediterranean cruise
family;;;
t, rrorioav o'oavs ago.
There is a cm splenomegaly, with no lymphadenop"tf,-y.
L
I
77 b.p.m., her RR/20 min, ind her CRT <'2 s.
i"ifrn L
"t
r Na 130 mmol/l
K 3.9 mmol/l
*. Ur 8.3 mmot/l
Cr 76 mmol/l
ALT " s5 tu/l
AIK. Ph 290 tu/t
90 100 Grey Cases in Paediatrics for MRCPCH
Bilirubin 35 pmol/l
Hb 11.39/dl
wcc 2.2 x l0sll (L 66%, N 22%l
PLT 9O x 10e/l
MSU Negative
Stool Negative
Abdominal US Large spleen only
1. What is the most likely diagnosis?
2. which two other tests are required to support the diagnosis?
3. What should the treatment be in this case, in three steps?
Case 49
A 1O-year-old boy presented with a history of right limb pain, which is
getting worse. He was playing football at schoolthis morning with
other children. He fell a few times but had no bruises or cuts on his
limbs. He had limb pain on and off in 7 of the last 12 hours but it was
not as extreme as he currentlyfeels. He had had no joint swelling or
rashes associated with this pain before. No one in his family suffers
from a joint or bone problem. He said he could not walk after he got
back from school. He has a low-grade temperature and is not able to
bear weight on his feet. His left lower limb is difficult to move. He can
bend his knees up to 90" on the right but only up to 70o on the left. He 3- What is tha rnost likelt
can do full hip flexion, abduction and internal rotation on the right a P',^;thes: diseaS€
side, but finds it very difficult to do it on the left side. He has a b JCA
generalised tenderness on his upper thigh and keeps his left lower c Septic arthritis
limb in a flexion position at the hip and knee joints. d Osteomyelitis
14.2 gldt
e Slipped femoral e
Hb
14.3 x 1Oe/l (N 75%)
f Neuroblastoma
WCC
350 x 10e/l
g Osteosarcoma
PLT
CRP 20
h TB arthritis
ESR 12 mm/hour
Case 50
1. Which other tests, in order, should be carried out immediately?
a X-ray of hips and knees A toddler, aged 2 years, Yr
b US of hips on her face. Her childmirrt
c Abdominal US morning her father had b+
d Blo6d culture business trip before luncl'
e Urine for VMA woke up at 3.00 p.m. witi"
f Bone scan said that the bruises were
g MRI of both lower limbs sleep, and that since the :
h CT scan of lower limbs her mother, refused to ha
i Hip aspiration She played outside with '
2. What two abnormalities appear on this hip X-ray? about 2 hours. Her mothe
a Dislodged left femoral epiphysis advertising in a family co
b Reduced joint space on left the childminder looked a'
c Beduced bone density on the left They visited a farmhouse
d Fragmentation of femoral head on the left animals and spent all da'
e Swollen soft tissues around the left hip ioints temperature is 37.5"C anr
0uestions 41-50 91
trr
{e 3. What is the rnost likely diagnosis?
a Fe+hes'ciiseasa
b JCA
c Septic arthritis
d Osteomyelitis
e Slipped femoral epiphysis
f Neuroblastoma
g Osteosarcoma
h TB arthritis
Case 50
A toddler, aged 2 years, was referred by her doctor for fresh bruises
on her face. Her childminder looked after her all day. Only that
morning her father had been working from home and left home for a
business trip before lunchtime. The mother said that her daughter
woke up at 3.00 p.m. with the bruises on her face. Her childminder
said that the bruises were not there before the child's afternoon
sleep, and that since the morning, she was clingy, wanted to go with
her mother, refused to have her breakfast, and felt hot at that time.
She played outside with her older brother, who is 3 years old, for
about 2 hours. Her mother is working full time as a director of
advertising in a family company. There were no other concerns and
the childminder looked after the mother's children for the last 3 years.
They visited a farmhouse 2 days ago and the children played with the
animals and spent all day at the farm. The girl looks tired, her
temperature is 37.5'C and her HR is 90 b.p.m.;there were no other
92 100 Grey Cases in Paediatrics for MRCPCH
abnornnalities found on examination apart from a red throat. The 3. a PCR for viruset
bruises are about 5 cm long and about three of them are located on d Mycoplasma i'
the right side of her face, anterior to her right ear. There is another
red mark, which is 1 cm long and is located on her right shin. There Viral encephalitis
are a few petebhial rashes'on her right fronto-parietal region, not
visible on the skin, but can be seen at the margin of the hair and skin. Acute presentation $ :'
The test results are: vomiting should aler: :
encephalitis as the fi's:
HB 13.2 gldt neurology associatec .''
WCC 8.2 x 10sll (L 60%) with herpes simplex e'
PLT 240 x 10sll usually complain of ':
INR 1 one minute they are 3
PTT 35s minute they will have :
PT 10s commonest focal ne;'
LFT & U&E Normal always focal, then be::
MSU Negative as those associatei r.'
CRP <10 of clinical suspicion it
Mycoplasma and ba::i
1. What is the diagnosis?
is important if the cn
a Trauma injuries not necessary. Cran.=
:
Case 42
1. cb
2.
Juvenile myoelonic epilepsy
Generalised spike and wave o'f 4 Hzls with photosensitivity
3. e Sodium valproate
's b Topiramate
n contact h Clobazam
k Liver biopsy
4. Kayser-Fleischer ring
Case 45
1. d Myasthenia gravis
2. Edrophonium test
Anti-acetylcholine receptor antibodies
EMG
Myasthenia gravis
This is a disease of the neuromuscurar junction, and is characterised
by proximal muscle weakness and increased faiiguability on
rnuscular exercise. lt can be a congenital, autoimmune disease
of
neuromuscular blockage due to toxins or drugs. ln autoimrnune
ca.sgs, it usually starts after 1 year of age andls more prevalent
in
adolescent girls. The onset is usuaily iisidious, with invorvement
of
the extraocular rnuscles with unilateral or biraterat opntrraimopiegia
and/or ptosis. This wiil.be.foilowed by involvem.nt Jr tne
froiimar
and bulbar muscres, which may read io difficurty in s*attoiiinj. tn
some.cases it may take weeks and months to spread from the-ocular
muscles to other rnuscres. This weakness is vaiiabre. Many prti"ntt
96 100 Grey Cases in Paediatrics for MRCPCH
,*j6rii-,g, but as the day passes, they {eel rnore fatigued and weak' will enuse mur:h i s::
;;;;i;iiyiot towing exercise. Examinaiion will show norrnal ref lexes spironr:iacto{\e ei.i I
*eufness in th-e proximal muscle group. There wiil be bileteral goal for *irrhosis c' : -
"ni
pr*i, *itn a histoiy of doubie Vision. The EMG will show abnormal oce ur in multipolv: . s:
I"["iitir" rtinrutation and will help in diagnosis. Abnarmalities will be cirrhosis of the live'
ii!"iiii"O ty the edrophonium chioride (Tensilon) test" ln 60-80% of
patients, the presence of antibodies aEainst aceiyicholin€ receptors $ase 47
iuiif U. *no*n. The creatinine kinase level is nr:rmal and muscle
oioprv wiil shov,,no specific features. The diagnosis can be. confirrned 1. Aridisonian cr s s
;;ih; Tensiton test" The test sho{-}ld bethe car:'ied oui in hospital with 2. A.bdominai i'rtr
ieruriitrtion equiprnent ready, in case ehild beeomes hypoxic eir Lsw-dose dexa --
develops respiratory arrest. Tire chi16 shoulcl have a testing dose and Midnight oori sl
t6e iuf f'dose should be given after 30 s. Vider: camera footage or .$hort Synact":-
pi''iotou shoulC be taken in order to obsenve the changes' 'An 3. Daily glucocoi': ::
anticholinesterase agent will be very helpf ul. This is life-long Saily minera c:: '
iieatment and in some patients other trealments such as Cranial MRi
corticosteroirJs or azathioprine can N:e useci. Thymectcimy ean be
.o"tiO"teO for patients when medication is not helpfLll' Aaute primary adrena
Fiur*apt',eresis can be performed in.ac.ute situations' when drugs Aeute adrenal ins;':
nave not had much effect and the child's generai coniition is chronie adrenal i,rs --
deteriorating, but its use is very limited' additional stress s.:-
suffer an acute ac -3 - !
and abdominal pe - '
Case 46 (mainly proxirriat, ::
1. Portal hypertension secon'Jary to hepatic cirrhosis hyperkalaen"ria, r. e: : :
2. CholangiograPhY and tachycardia, ',., -
ERCP death if not recog^ s
Gase tl7
1. Addisonian crisis
2. AbdominatMRt
Low-dose dexamethasone_su ppression test
Midnight eortisol levetr
$hort Synacthen test
3. Daily glucocorticoid-replacement therapy
Da i ly minera locortico id_repl a ce ment
tfr'eia py
Cranial MRI
ilr*
ffi
[ffii
[['lii
ll'
I
I
t 98 100 Grey Cases in Paediatrics for MRCPCH
Case 49
Random measurement of cortisol is often unhelpful, but the short
Synacthen test can be helpful in diagnosing the disease. lt is also 1. b US of hips
associated with positive autoantibodies in 60-7Ao/o of affected a X-ray of hips ;
individuals. Replacement,therapy is with glucocorticoids and e Urine for VMA
mineralocorticoids, but looking for the cause is vital and the 2. c Reduced bone
progncsis is dependent on the cause of the Addison's disease. d Fragmentatior
Children in whom Adciisonian crisis is suspected on first presentation 3. a Perthes'disea
should be investigated fully for an underlying endocrine problem.
Acute painful hips
Case 48 Trauma is one of the c
confirm this condition
1. Typhoid f:ver
suspected if no cause
2. Repeat stool culture
Salmonetla typhiserology (O & H antibodies) ln the majority of case
3. l.v. fluids UTI that occurred in tf'
Anti biotics (ci proflucloxacilli n) refuse to walk and olo
Hygiene The examination wili s
extend. The affecteci c
Typhoid fever and any attempt to ex
Blood tests will be nei
S. typhi only infects humans, and causes typhoid fever when an
fluids; aspiration of tn
individual eats contaminated food. S. typhi can survive for a long time,
are negative. Rest ar:
even in frozen or dried food. After an incubation period of usually needed.
10-14 days, vague influenza-like illness with fever, malaise, pains and
headache develops. The fever persists for a week and ihe child will Osteornyelitis and sep
become illwith vomiting, abdominal pain, diarrhoea and cough. There paediatrician and an c
will sometimes be constipation in older children. The affected child move and the chllci r;
looks septic and confused, and has a high temperature. There will be markers will be high a
tachycardia and tachypnoea, but later on, as the disease progresses, provides guidance tc
bradycardia may evolve and chest signs will appear. There is diagnostic, and wher
generalised tenderness in the abdomen, which is also distended. helpful. Treatment is
There may be meningeal signs and hepatosplenomegaly in many untilthe inflammatsr
cases. Sometimes perforation of the gut may occur, especially in the asymptomatic; ther: o
second or third week of illness. This is usually associated with sudden antibiotics will last 6-
deterioration, hypotension, tachycardia, abdominal pain and rigidity. and improvement in t
The blood culture is positive in more than two-thirds of patients in the be treatedwith broad
first week, but only in hal{ of these patients will the stool sample be Staphylococcus infect
positive. The Widaltest may be helpful; an O antibody of more than
Other causes of painf
{our-fold will indicate infection with S. typhibut a high H antibody will Perthes' disease, sickl
indicate previous infection or vaccination. Anaemia, hyponatraemia neuroblastoma, leuka
and thrombocytopenia occur with this illness. Supportive treatment histocytosis, rheumat
with careful electrolytes and fluid balance is more important than
trying to treat the infection with antibiotics. Chloramphenicol,
co-trimoxazole and amoxiciliin are very effective in treating S. typhi.
Ceftriaxone and ciproflucloxacillin are used more frequently these Case 50
days as species of S. typhi become more resistant to other antibiotics. 1. g NAI
Discussion with a microbiologist regarding antibiotic use is very 2. a Admit the ctrlT
important after getting a positive culture, and sensitivity is very e Check child I
important. The duration of illness varies from 7 to 14 days with the d lnform Socia
introduction of antibiotics, as advised by the microbiologist.
100 100 Grey Cases in Paediatrics for MRCPCH
but the aim is to pioiect the child as well as the parents' Child LFT Norn
protection teams will ask health professionals for their opinions and if U&Es Norr
this cannot be given, the child should be referred to the child ECG Norn
protection team leader in the treating hospital. 1. What is the diagn
2. What is the single
3. What treatment s
Case 52
A boy aged 7 years n,a
diarrhoea, which las'te'
underwear and has be
bowelfive times a dai,
Fresh blood was pres€
his passing a large ar-
weight is 25 kg. There
is no family history ct
Africa and the family :
bananas and sweet c:
fullness. His bladder i:
clinic appointment- Tr
He is the only child ir'
abroad.
He does not want to I
not accept him until :
The following tests n
ESR, CRP. Other tesr
ouEsTtoNS 51-.60
Case 51
A.10-year-old. boy preseited with a history of nightmare episodes,
which started at the age of g years. The eiisodei describeb uy rris
mother are as follows: he wakes up with iris mouth deviated t'o on"
side,.unable to speak, with saliva pouring from his rnouth and his arrn
shaking. This reaction lasts 2-3 min and ihen he is alright. sometimes
he falls from his bed and when his mother arrives he ii confused and
talking 'gibberish'. These episodes become more frequent during the
week but he never misses school. He was a FTND. Hii father
experienced the same sort of episodes but grew out of them by the
a.ge o! 13 years. There is no family history of epilepsy or sleep
disorde.rs. His general and systemic examinatibn wai nor-af ,part
from.a. hyperpigmented patch measuring 3 x 4 cm on his left
shoulder plate. His awake EEG was repo-rted as normal. other test
results are:
BS 4.5 mmol/l
Ca 2.36 mmol/l
Mg 0.91 mmol/l
LFT Normal
U&Es Normal
ECG Normal
1. What is the diagnosis?
2. What is the single most useful test?
3. What treatment should be given?
Case 52
A. boy aged 7 years was referred by his doctor with a history of
diarrhoea, which lasted fqr t!19 preceding 4 months. xe atwivi has dirty
underwear and has been builied at scho6rfor his smeil. He oblns nis
bowel.five times a day, with a runny stoor and has to rush to the toiret.
rresn Dlooct was present on three occasions, which was associated with
his.passing a large amount of faeces. He has not vomited and his
yeiglt is25tg' There has been no previous medicar probrem ,r,d th"r"
is.no family history of a similar illness. Both parents are from west
Africa and the family eats an African diet when possibre. He rikes
bananas and sweet corn. His abdomen is soft, with a generatised
fullness. His bladder is full, even if he passes urine 2 h-ours before the
clinic appointment. There are no peri-anal lesions and no fissures.
He is the only child in the famiry and there is no history of traver
abroad.
He does notwant to go back to school and feels that his teacher
will
not accept him untilthis problem is sorted out.
]!gto-[o_wt!g tests were a]l normal: FBC, U&8, TFT, coeliac screen,
ESR, CRP. Other test results are:
102 100 Grey Cases in Paediatrics for MRCPCH
a Urinary org a -
Case 54 b Calcium/cree.
A boy aged 10 years presented to his doctor with loin pain' He had c Water dep:i, a
naa tfrijbefore 6nd it was resolved with analgesia. His GP asked him d Urine toxicc :
to drink a lot of fluids and he has been drinking 2'5 l/d' He has to e Renal US
wat<e up three times every night to go to the toilet. His father suffers f IVP
from high blood pressure, caused by nephropathy. He is very skinny g Kidney biccs.
and in iain. He was given codeine phosphate, which helped a little h 24-hour ur -r
bit. Aftbr a short period he started shouting from the toilet that he i ,Abdomina - :
was bleeding frorn his penis. This stopped straightaway and he was
rushed for an abdominal X-ray and admitted for further management.
His test results were: Case 55
following an episoc:
1. What is the ne>t test thai should be carried out?
admission she was -
a Abdominal US
overnight, ihe situa:
b AbdominalCT
The rnultisticks texl s
:
c AbdominalMRl
the test for C/S was -
d Upper GIT endoscoPY with biopsY
centile, and she has :
e Lower GIT endoscoPY with bioPsY
active as she useo tc
f Barium swallow and follow through
the time in winter, r:
g RePeat stool cultures
Bangladesh and are :
2. tist two abnormalities that appear on her barium swailow and
evidence of cataract :
follow-through X-raY?
normal, and anothe: :
abnormalities apa r-i .-
Na 136 .
K 3.5 -
Ur 5.3 ^
Cr 70--
ALT 12-
Atk. Ph '15C
Bilirubin
Ca
Mg 0.7:
Phosphate l.J -
CRP <5
ESR <2'
TSH 30.6
T4 10r
Hb
wcc 6.C ,
PLT 250 .
FSH 30r
Urine
WCC 10c
RBC 30
Cast Fec :
3. in what order should management steps be carried out Nitrite Neg:
imrnediate!y? Protein a--
a Oral prednisolone of 2 rng/kg for 2-3 weeks AA Pcs :
b Polynneric diet pH 5.3
c AzathioPrine
1. Which three nc.- -
d Mesalazine
a Slit lamp ei,:
e Metronidazole for 'l week
b
f Gluten-free diet
c
Renat US
g LaparoscoPY
d
i.v. ureterog-a
I Surgical removal of affected intestine Measuring -:
i ftefer to psYchologist e Cranial l,4F
j !nvestigate othei nne*rbei"s of family
Ouestions 51-60 107
Case 56
f DMSA scan
g Urinary GAG ECHO i
h Urinary organic acids and AAs DMSA It
i Urine for reducing substances Renal Doppler tt
2. What is the-most likely diagnosis? Midnight cortisol
a Hypotliyroidism Ca 2
b Lowe syndrome 1. What are the thn
c Renal vein thrombosis order would you
d Lead poisoning a Neurofibron
e Nephrotic syndrome b Neuroblasto
f Galactosaemia c Conn's dise:
g Cystinosis d Chronic reru
h Tyrosinaemia e Phaeochrorr
i Wilson's disease f Pituitary ade
3. Which othert\^rotests may help the diagnosis? g Congenitala
a Radionuclide scan for thyroid gtand h Raised intra
b Ur.inary organiqacid i Essential hyl
c Serum AAs j Renal artery
d White cellenzyme 2. What are.the mo
e Serum lead level
t Bone marrow aspirate
o Serum copper and caeruloplasmin Case 58
h Fibroblast cell culture
A 7-year-old girlwas
seizures. She was an
Case 57 of 10 months she wa
delay with hypotonia
A child presented with a history of pallor, headache, blurred vision squint, and ocular mr
and sweating. His parents mentioned thathiS heart races from time to family history of ptos
time, specifically when he sweats. He feels tired and has a problem age of 6 years she de
getting to sleep. His mother said that he was dribbling for 2 days, sodium valproate wa
i montf, ago. His is now 7 years old and said that he has a headache spikes and waves to r
that is generalised and lasts all day, but never'wakes him at night or age of 7 years she st;
is worsi during the morning. At school, there are some occasions caused a dystonic pa
when he needs to leave the classroom for a rest. His blood pressure her eyes rolled up an
is 130/80 mmHg, HR is 90 b'p.m., RB 20/min and temperature is
37.2C. He has two hyperpigmented patches measuring 4 mm each Two months later her
on his torso but has no other skin lesions. There is no organomegaly not able to feed herst
and no heart murmur. All pulses are intact and his visual field and with swinging of trer
acuity are compatible with his age. The fundi are difficult to visualise She is developmental
as he complains that the light is hurting his eyes. His father works as age of 5 years. Her m
a postman and his mother is a housewife. He is the youngest of three her hearing and visiq
children; the older two are healthy. His grandfather died from
ischaemic heart disease' The test results are: She looks well, with e
right eye (this was co
Na 134 mmot/l tremor, with bradytin
K 4.2 mmot/l with generalised hypr
U 2.3 mmol/l centile and her OFC it
Cr 45 mmol/l mass on the left side.
MSU Negative
KUB US Normal Urea 9.1 n
Cr 87m
Questions 51-60 i09
ECHO Normal
DMSA Normat
Renal Doppler Normal
Midnight corriFol < 200 mU/l
Ca 2.48 mmot/l
1' what are the three most rikery differentiar diagnoses, and in what
order would you make them?
a Neurofibromatosis type 1
b Neuroblastoma
c Conn's disease
d Chronic renal failure
e Phaeochromocytoma
f Pituitary adenoma
g Congenital adrenal hyperplasia
h Raised intracranial piessure
i Essential hypertension
j Renal artery stenosis
2. What are the most useful investigations?
Case 58
A 7-year-old girlwas referred to a specialist centre
with ataxia and
seizures. She was an FTND ano rraJno-nuon"t"t proutems.
of 10 months she was seen by rrer cF, wno oiagnos"J Ai in"
"g"
o"i"iop*"ntut
delay with hypotonia. she was ,eieir#to
ed vision an eye doctor for her
frcm time to squint, and ocurar motor apraxia was diagnosed.
There is strong
r oroblem
family history of ptosis (mother unJ rnltu.rnat grandmother).
age of 6 years she developed absence i"lrrr"., At the
2 days. and treatment with
sodium vatproate was stahed. an e iG pe.tor*eo
:headache
spikes and waves to one side, and was iescribeo
;;il';i;;e snows
a: night or as auno-r-m"at. ay tr,"
:casions age of 7 years she started to have a aifreient
type of seizure, which
c pressure caused a dystonic Dosture of her arms that tasiiO
tor, up to ZO ,in,
her eyes rolled up and she *""not ,Of
i-rre is io communicate.
:nm each "
Two months rater her abirity to wark started to deteriorate, she was
;aromegaly not able to feed herserf, and myocronic seizures
emerged, associated
'e d and with swinging of her head.
:: visualise She is- developmentally delayed, and first walked
:' ivorks as and spoke at the
age of 5 years. Her memory is describeJty hern,otr,"i-J';sloo,,
;est of three her hearing and vision are normal. ano
'-:11
she looks well, with a convergent squint on the reft
right eye {this was corrected it trr" Jg" of s years). eye and a normar
tre.mor, with bradykinesia and a widi base gait.
she has marked
Her tonu ir reJuced,
with.generalised hyperrefrexia. Her *eighi
and height are on the 3rd
centile and her oFC is on the 1Oth centiie. There
ir in JJo-i"rr
mass on the teft side, not crossing the midrine.
rne test res;ii;;r",
Urea 9.1 mmot/l
Cr 87 mmol/l
110 100 Grey Cases in Paediatrics for MRCPCH
Case 60
A 1O.-year-old girl presented with a history of severe
scoliosis, and
small and short wasted rower limbs. There is weaknesson
upper limb, with left subtle facial weakness. She
tn!lignt
l.'a is the
rnainstream school. There is no bowet probrem,
attends a
ni uut st',e *ets herserf
during the night if she has been stressed or irt, urtrrr"
rad mild
day at the age of 2 years and by night by tn"
*r. ;t;y
rrr'rh a 5 v"rir. ffl"
,,r.no. BY the
weakness.in her leg was noticed wlren sne waig "g"ofmonih, of age ano
has.bee.n investigated. Spinal dysraphism was
'ibeC as diagno"eO unO"no
further investigation has been carried out. Now;h; p;;;;;l"i,n
estigation. weakness.in the right upper rimb, severe scotiosis,l!v**"rrv'or ,
? optic upper timbs, ctumsiness with her right hand, tn"
oiogical .uUif" i;g;ii*i.f
weakness with marked lower limb iasting. ""A
leC An
t.'rtery she has a full range of eye movement and the results of
the fundi
onths he had examination are normal. The power in her upper limbs
is gooJ anO
: Cvstonia. she can walk downstairs whire hording onto ir,"
rairing. H.",. to"" r,
r
112 100 Grey Cases in Paediatrics for MRCPCH
ANSWERS 51-60
normal, as are the reflexes in her upper limbs. Power is zero, the tone
ir trvpJi""i. and reflexes are absent in the lower limbs' Sensation is Case 51
i;i;tii;iil rpp"r timbs. The tactile sensation is absent in the lower
t 1. BRECH {benion F
limbs. 2. Sleep EEG
A nerve conduction study \/as carried out on the lower limbs and
the 3. None
i"rrtt, rt" as follows: the sensory pa( is normal bnd the motor part
i" .U"ti*"t up to T3 level. There are no abnormalities in the upper Benign childhood epi
limbs, with normal overaltEMG' This is a common syr
1. What are three possible diagnoses? childhood; the onset ,
Case 52
1. e Constipation r
.)
i Bepeat abdon
2 I Picotax tor 2 d
d Start laxativeI
e Give advice at
A,NSWERS 51-60
Case 5l
BRECH {bl:nign Rotandic epitepsy of chitdhood)
I
2" Sleep EEG
3. None
Case 52
1. e Constipation with overflow
?. iI
3.
Repeat abdominal examination
Picolax for 2 days
d Start laxative fiactulose and sennal
e Give advice about diet
need to carry out an abdominal X-ray to diagnose constipation; the 3 weeks, which hi:s :
clinical diagnosis can be made fronr history and exarnination. optic neuritis is ve:"
Examination of the perineal region is necessary to rule out fissures or evelive. Most patier:
other abnormalities. A rectal examination should not be undertaken persistence of op:,: i
unless the historry indicates the need for it. Treatment involves remain irnpairecl.
prescribing a stool softener and starting with a simple stimulant such
as senna and lactulose. ln children who are soiling their clothes, an #ase 54
aggressive approach with a stronger laxative is probably needed to
clean them up in the first instance, then a softener and stimulant 1. N,Jephrogenic c
should be added. Difficult cases may need frequent enemas. which ?. ffiilateral r€na
=
-
are not tolerated very well by some children. Children with a heart 3" Abdomina
condition should not be prescribed strong laxatives. lnvolvement with a Urinary cr;:
a psychologist and nurse specialist is needed in difficult cases. b Calciurn,'c-=
FJephrocalcinosis
Case 53 Causes
1. b Cranial MRI 0xaiosis is an autcs:
a CSF for oiigoclonal bands metabolism, caus -l
2. i Optic neuritis thr;rs are three pa:::
b Retrobulbar neuritis wltli nephrocalcincs
d Septal orbital cellulitis with abscess iuv*nile type vrith '=
3. a i.v. methylprednisolone for 3 days depr:sition, which -
c Oral prednisolone 2 mg/kg for 6 weeks less oxaiate secrei -
excessive giycolate ,
Optic neuritis fixalate arrd L-gly::"
of this *unditicn ,s :
This is involvement of the optic nerve by inflammation, degeneration rryhe"lher high or r: :
or demyelination, resulting in impaired vision and pain around the nephrocalcincsis, --
involved eye/s. Both MS and optic neuritis have the same aetiology. leukccytes in type I
Some children with optic neuritis may develop MS later in life. Some intakes of oxalate a-
viral infections may cause optic neuritis, including measles, varicella, excretlon in type : :
and mumps. lt can be associated with Miller Fischer syndrome. lt is inhibit calcium oxa :
characterised by a sudden reduction in visual activity, either
unilaterally or bilaterally. lt is usually preceded by headache and AnothercBUSB, nrr:
painful eye movement. lt usually starts by causing blurred vision and asyrnptomatic. li s s
*alculi and eolic,
*-.
progresses to a complete loss of vision within a few days. Biiateral
involvernent has been reported in75% of cases. A swolien disc can ievels of phr:spi-::=
be seen in 75% of cases (neuropapillitis) and retrobulbar nes.i!"itis in absorp'iion of ca :
?5o/o in a normal fundi examination. Central scatomas wili be vlsible renal iubuiar def ::
in a visuai field examination. with delayed visually evoked response. sauses but none :,
Other causes sl-rou!d be excluded, such as malingering and hysteria, caieium and ox: ::
and other caLlses of optic nerve compression such as optic Sliomas' Other causes inc ,
pituitary adenoma (eraniopharyngiorna), and an AV maiforrnation D intake, sarcoic: s
pressing on the optic ne!-ve. Retrobulbar abscess follows septal hrypothyroidism :
ceNluiitii. An lylRl scan will show demyelination of one optic nerve or kidney.
both. Tlre risk of develop!ng MS in urtilateral optic neuritis is high and
the CSF may show pleocytosis and increased intrathecal lgG ease 55
production of oligoclonal antibodies" [!o treatment has been proven
io be of value bui corticosteroids have been recommended in the 1. d, e, Upper e-
form of rnethylprednisolone for 3 days and oral prednisolone for Cobblestone ::
Answers 51-60 11S
rg
3 weeks, which has been very herpfur. The foilow-up
of patients with
optic neuritis is very important a$ there is a high rlsr tr,at rrns
sor evolve. Most pati'nts recover normaror usefulvision oespite tr.,"
*av
persistence of optic atrophy, but.corour vision
and stereo-Jcopie v;sion
remain impaired.
uch
n
lo Case 54
€n Case 55
1.
2.
d, e, Upper and lower GIT endoscopy with biopsy
Cobblestone appearance, and string sign
l
115 100 Grey Cases in Paediatrics for MRCPCH
abdorninal diseas= !
Cystinosis out a biopsy or i-: '-
This is a metabolic disorder that is inherited as an autosomal cxybenzamine a- I :
recessive condition; the gerre is located on chromosorne '!7p. Prenatal
.!'ii
Answers 51-60 117
Gase 61 p .
ry
i
122 100 Grey Cases in Paediatrics for MRCpCH
i
124 100 Grey Cases in Paediatrics for MRCPCH
MSU
pH 6.1 febrile and miserable, nr
b.p.m., Sat level of 899.
wcc 10
There is marked interco
BCs " 5, lungs. The liver is 1 cn:
Calciurn/creatinine ratio High
200 mosmol/l is no heart murmur an3
Osrnolality
't. What are the most likelY causes? CXR, which was descrl=
(pneumonitis) with mur:
a Fanconi sYndrome right costal margin. The
b Chronic renalfailure
c Nephrogenic diabetes insiPidus CRP 250
d Distal renaltubuiar aeidosis {TA) Hb 9.49:
e Proximal renalTA WCC 24 x',i
f Hypercalciuria PLT 350 x '
g PrimaryhYPerParathYroidism ESR 10
h PrimaryhYPothYroidism lg Norri a
2. What is the diagnosis? CD4/CD8 ratio Norma
3. Which four other investigations may help the diagnosis? CH50 Norma
a Amrnoniurn chloride loading test Heaf test No ree
b Serum AAs Sweat test Na < 4
c Water deprivation test
d PTH
1. What other invest';
e TSH/r4
a Bronchoscop.r'
t Calcium/Cr ratio
b Chest CT
Chromosomes
c Measles lgl\4 a'
s d Rubella lgtv'i a-
h IVU
DMSA scan
e NPA
i
Urine organic acid and AAs
f Echocardiogra:
i S, Mantoux test 1
, h HIV antibody
Case 84 i Mycoplasme.'
with her mother and had a history of having
j Gastric wash f :
A toddler presented 2. What is
past 7 days. This started with a high temperature. the most 1,.:
been unwell for the a HIV infection
She wouldn't eat and was irritable. This lasted for 2 days, then she b Giant-cell pn:-
developed a rash all over her body, which started at her neck and c Cystic fibros
then spread. The GP saw her at this time and diagnosed a viral rash.
s
Her temperature stayed down for another 5 days but then she had a
d Diamond-Scr,
very hig'h ternperature agairr, with rigors and irritability' Her mother
e Combined ir-
gave her paracetamol overnight, but the girl was still not able to sleep
f Foreign bocy
g Bronchiectes s
Ind was described by her mother as'jurnpy ail night" She is one of h lnterstitial c-=
seven children, of a travelling family that now lives in a caravan.
Three of her elder sisters and one brother have been unwell before
her, with a similar illness and rash, but recovered within 5 days and Case 65
only have the remains of the rashes on their bodies. The rnother also A 7-year-old boy r,,as ':
said that all of them had watery eyes and were drooling. There is no tonic-+lonic seizu re : -
peeling of the skin and there are no ioint problems. The toddler is 18 with an altered ler.e :-=
month; old and her mother is not sure which of her children have before, he had bee" --
been vaccinated and which have not, but she thinks her daughter has drowsy and sudde- ;
had the vaccine (BPT + polio and Hib) only once. There are a dog and level of 1.1 mmol
a cat living wiih the family. The parents want to move the family to test shows +-+- kei- - : :
another site as soon as their daughter starts to get better. The girl is of rnuscle parns. -: -:
Questrons 61-70 125
Plasma AA, lactate, NHo, very-long-chain fatty acids, GH, cortisol' and 1. What are the '
TFT levels were all within normal values. urine organic acid and AAs a ECG
were normal. b MRI of r:
1. What is the most likely cause of his seizures? c Cathete- s
a Lack of sleeP d Echoca':
b HyPoglYcaemia e CXR
c High ketones in urine f Abdorr ':
d High blood Pressure g X-ray oI q
e Uraemia h 24-hou'i
2. What is the most likely diagnosis? 2. Which three :
3. How could the diagnosis be confirmed? a ASO tji,::
b Throat s,'"
c Anti-D\a:
Case 65 d Blood f -
joint pain e Blood :- '
At the age of 11 years, a young girl presented to A&E with f DNA Cc,:
unO *ru"not feeling well' She was treated for an episode of.
tonsiilitis 6 weeks igo, which she recovered from completely but has
SCK
h Chron':s
fett tired ever since Ihen. She has a rash on her back and lower limbs i AAs
that looks like bruises' She finds it very difficult to sleep j Swea:::s
wiinout using three pillows under her head, as her breathing is kls
years
muetr Uetterir;tn ther". Her {ather died from a brain tumour 3 I Thyro c '.
ugo. goth her sister and brother are well. Her mother is a full-time
m Viral t:'=
tJacher, and two cats and three goldfish live in the house with them. EBV
She does not go to school anY more as she is too tired' Upon
e*piration, a gitlop rhythm whh-early diastolic rnurmur at the mid- s.n ECHO was::-
itJrnat edge ian be heard. A soft systolic murmur can also be heard ,aflet was thl:-.: -
,i1fr" upui. An ejectlon systolic click can be heard at the lower sternal 'aradoxicalll,. --:
eOge. fhe liver measures 3 cm below the costal margin, and has a uicuspid with :: '
smooth surface. The test results are: gradient of 36 - -
Na 141 mmol/l 3. What lesi: - s
K 3.9 mmol/l a l\4itra ,:
U 6.2 mmol/l b Aorti: s-=
Cr 55 mmol/l c Bicus::
Ca 2.12 mmol/l d Mitra .:
Alb 36 gil e Mitra '':
Total protein 70 gil f ASD
ALT 35IU/I g VSD
Ark. Ph 280 lu/l h Pulrr: ^,
Hb 11.2gidl i Tricls: :
WCC 6.9 x 10s/l 4. What is t^= :
PLT 450 x 10s/l a Acute --;
tNR 1.1 b Endo::" :
PTT 50 S c Cong=- -
d [4yo:=':
Questions 61-70 127
ANA Negative
ReF Negative
ESR 60 mm/hour
CRP 25
1. What are the'most urgent investigations?
a ECG
b MRI of heart
c Catheterisation
d Echocardiography
e CXR
f Abdorninal US
g X-ray of knees
h 24-hour ECG
2. Which three other investigations are appropriate?
a ASO titres
b Throat swab
c Anti-DNase
d Blood film
parn e Blood culture
f DNA double strand
has SCK
limbs h Chromosomes
i AAs
j Sweat test
years klg
I Thyroid function
them. m Viral titres for: coxsackievirus, adenovirus, parvovirus and
EBV
mid- An ECHO was performed and showed that the anterior mitral valve
heard
sternal 'eaflet was thickened and the posterior leaflet was moving
paradoxically. There is mild mitral regurgitatlon. The aortic valve is
a
bicuspid with AR flow velocity. The Ah now velocity was 3 mls with a
gradient of 36 mm. The peak systolic flow across the valve was 2 m/s.
3. What lesions are associated with ECHO and clinicalfindings?
a Mitral valve stenosis
b Aortic stenosis
c Bicuspid aortic valve stenosis
d Mitralvalve prolapse
e Mitral regurgitation
f ASD
g VSD
h Pulmonary stenosis
i Tricuspidregurgitation
4. What is the diagnosis?
a Acute rheumatic fever
b Endocarditis
c Congenital heart disease
d Myocarditis
128 100 Grey Cases in Paediatrics for MRCPCH
e JCA a Rehydration
f SLE b Regular sedation with
2 c Regular sedation with
67
' d Maximise L-dopa
Case e Ventilate and sedate
A 13-year-old girl was admitted to hospital with a history of f Daily CK and U&Es
deterioration in her dystonic movernents in the last 2 days. She is g Transfer to PICU
known to have dystonic cerebral palsy. Co-careldopa helped slightly h Regular analgesia
and she was given 10 mg oral diazepam when needed. She had had
diarrhoea, which stopped 24 hours before admission. She was born Case 68
at term without pre- or postnatal problems. Her problem started at
the age of 2 years, when she couldn't walk and developed abnormal A male infant was seen in the r
movement, and since then her global development has been behind. tachypnoea and no feeding fo'
She is conscious and able to communicate with her mother, but the normal vaginal delivery. His rn
dystonic movements continue and she finds it very distressing. The he has wvo older siblings, ager
dose of Co-careldopa was increased to 125 mgltwice a day and she healthy. The father has obtainr
was given one dose of chloral hydrate and 10 mg of oral diazepam. 7 months. The boy is now 4 n-
She was still having violent dystonic movements t hour later, and the fed while they live in a refuge-
results of the blood tests are: OFC is 42 cm, HR 120 b.p.m., i
intercostal recession, and tne'
Na 130 mmol/l reduced in both bases, and tii
V 4.7 mmol/l measures 3 cm and there is c:
Ur 6 mmol/l his neck. He is sleepy. O, was
Cr 120 mmol/l with a reservoir, and the Sat D
ALT 55 rull tonsils and there are two birtt
Atk. Fh 330 rufl admitted for investigation arc
Hb 1a slot
PI.T 250 x'l0s/l Hb 9.6 g/dl
CRP <5 WCC 15.9 x 10P,1
a Rehydration
b Regular sedation with diazepam
c Regular sedation with chloromethiazole
d Maximise L-dopa
e Ventilate and sedate
f Daily CK and U&Es
he is g Transfer to PICU
slightiy h Regular analgesia
rad had
rs born
Case 68
ted at
,normal A male infant was seen in the rapid access clinic with a history of
behind. tachypnoea and no feeding for the last u18 hours. He was a full-term
but the normal vaginal delivery. His mother is a refugee from Zimbabwe and
rg. The he has two older siblings, aged 4 and 6 years, who are well and
rd she healthy. The father has obtained a visa to enter Britain in the last
epam. 7 months. The boy is now 4 months old and has been totally breast-
. and the fed while they live in a refuge-detention centre. His weight is 4.600 kg,
OFC is 42 cm, HR 120 b.p.m., RR 30/min, Sat level in air 91% with
intercostal recession, and there is subcostal recession. Air entry is
reduced in both bases, and there are no added sounds' His spleen
measures 3 cm and there is one large cervical gland on the left side of
his neck. He is sleepy. O, was given at a rate of 5 l/min via a facemask
with a reservoir, and the Sat picked up to 95-97o/o. He has large
tonsils and there are two birthmarks on his abdomen. He was
admitted for investigation and treatment. His test results are:
Hb 9.6 g/dl
WCC 15.9 x 1Os/l
PLT 250 x 10s/l
ALT 25 tu/l
Ark. Ph 125 tU/
TSH 1.56 mU/l
T4 15 mU/l
CRP 145
lgG 22.2
lsA 5.4
lsE <z
Abdominal US Large spleen measuring 3 cm
MSU Negative
Mantoux test 1:10000 & 1:1000 Negative
1. Which two abnormalities appear on the CXR?
a Hyperinflation
b Consolidation of the lower lobes
c Bilateral prominent hilars
d Bilateral nodular infiltration
e Pulmonary oedema
f lncreasedbronchialwallthickening
g Right upper lobe opacity
l'r lnterstitiaI granulation in both ]ung fields
130 100 Grey Cases in Paediatrics for MRCpCH
Case 70
A 9-year-old girl presented with a history of joint pain, fever and
headache. She had lost 6 kg in the past 2 months, was increasingly
lethargic and had poor concentration. Her blood pressure was
measured by her GP when she was 8 years old and was 110/75
mmHg; at this time she presented with a rash all over her body that
was described as 'a small pinpoint rash'. This rash disappeared after
advice from a paediatrician to give a S-day course of oral prednisolone
on the basis of diagnosis of Henoch-schonlein purpura. i{er blood
pressure was never checked again. A headache started 2 days ago
Jelay, FTT, and is severe enough for her to find it difficult even to chew.
om the age Paracetamol helped for 2 hours only. The pinpoint rash comes and
,roblems. goes bl,t she never bothered to ask for help as she has been totd it is
r she had benign and will go in time. $-{er BF was 130/80 mmHc on three
132 100 Grey Cases in Paediatrics for MRCPCH
occasions. The rash is mainly on her arms and legs and is present to
a lesser degree on her face and chest; it does not blanch when ANSWERS 61_70
pressed. She is afebrile at the moment but hertemperature can be
high on some days* The longest period she has had without a Case 61
temperature was 7 days, 2 weeks ago, after a course of antibiotics 1. Renal osteodys'i'cr
and non-steroidal anti-inflammatory drugs (NSAlDs). No other 2. c Chronic renal '
abnormalities were found on systemic examination, apart from a a Rickets
swollen left ankle joint. An X-ray of the joint showed soft-tissue 3. b Renal osteoC;
swelling. Other test results are:
Renal osteodystrophy
LFT and U&Es Normal
ESR 70 mm/hour This is due to disturba
CRP 25 secondary to chronic :
Ferritin 1600 hyperparathyroidi s rn,
PLT 345 x 10e/l hypocalcaemia due to
DNA double strand Negative vitamin D metabolisrn
Renal US Normal biochemical changes;
Cranial CT Normal with contrast is mainly related to tin
Hb 12.5 gldl is worse with congeni':
wcc 6.8 x 10s/l ml/min/l.73m2, renal s
ANA Weakly positive skeletal symptoms are
(short stature), bone p
hydroxych o eca cif ero
I I
1. What other tests may help the diagnosis? start to appear in patie
a Henal artery angiography hyperphosphataemia,
b Renal biopsy hyperparathyroidism i
c Pin-point lesion biopsy )letary phosphate res
d HBsAg ,icarbonate) are effec
e Lyme disease serology i.voided in children. R
f DMSA scan therapy in patients w'i:
g Cranial diffuse weight (DW) MRI complications.
h Muscle biopsy
i Joint biopsy
j Mycoplasma titres
k Skin biopsy Case 62
I Renal US
2. What are the most likely diagnoses in order? d Benign parox
a JCA Good and no trea
b SLE
c Kawasaki disease Benign paroxysmal vr
d Henoch-Schonleinpurpura
e Behget's syndrome This is a disorder cr
f Lyme disease by a sudden onse: :'
g Hepatitis B The child will lie ma:
h Polyarteritis nodosa held by a parent. Aie)
i Phaeochromocytoma events. The child '*
j Renal TB These episodes mar
k Ehlers-Danlossyndrome replaced by headacrr
I Scleroderma of migraine is alwa
''s
m Mixed connective-tissue disorders antimigraine trea'll-.e
associated with hea:
Answers 51-70 '133
fesent to
EN ANSWERS 61_70
:can be
ta Case 61 t
biotics 1. Renal osteodystrophy
her 2. c Chronic renal failure
iom a
a Rickets
Fre 3. b Renal osteodystrophy secondary to chronic renal failure
Renal osteodystrophy
This is due to disturbances in bone and mineral metabolism
secondary to chronic renal failure. Phosphate retention, secondary
hyperparathyroidism, skeletal resistance to parathyroid hormone,
hypocalcaemia due to malabsorption of calcium, and changes to
vitamin D metabolism in patients with chronic renalfailure are
biochemical changes associated with renal osteodystrophy. Severity
is mainly related to time of onset, of renal failure and to the cause. lt
is worse with congenital causes. lf the GFR is more than 25
ml/min/l.73m2, renal dystrophy is very unlikely tb occur. Many
skeletalsymptoms are associated with this; including poor growth
(short stature), bone pain, and skeletal abnormalities. 1-Alpha-
hydroxycholecalciferol should be given when biochemical changes
start to appear in patients with chronic renal failure (hypocalcaemia,
hyperphosphataemia, a rise in alkaline phosphatase or
hyperparathyroidism) or if the GFR falls below 25 ml/minl1.73m2.
llietary phosphate restriction and phosphate binders (calcium
:ricarbonate) are effective, and aluminium hydroxide use should be
avoided in children. Renal transplantation is the best replacement
therapy in patients with chronic renal failure and associated
complications.
Case 62
1. d Benign paroxysmalvertigo
2, Good and no treatment is required
Benign paroxysmal vertigo
This is a disorder of infants and preschool.children. tt is characterised
by a sudden onset of vertigo, with difficulty in maintaining posture.
The child will lie motionless on the floor, or indicate the need to be
held by a parent. Ataxia and headaches are not associated with these
events. The child will be pale, exhibit nystagmus and be frightened.
These episodes may last a minute or two. The attacks may be
replaced by headache and vomiting as time passes. A family hixory
of migraine is always present. No treatment is required, but
antimigraine treatment can be given, especially if attacks are
associated with headache.
134 100 Grey Cases in Paediatrics for MRCPCH
ln the classic type of distal renal TA, there is an inability to lower Very rarely (seven in 1 0t
urinary pH below 5.8 and an inability to excrete appropriate amounts sclerosing panencephai i:
of acid, even when a loading acid dose is given. lt can be diagnosed initial infection. lt is a pr':
by an ammonium chloride loading dose that fails to lower urinary pH will present with freque.
below 5.8; urinary acid excretion will be reduced. There are many touch - progressive den
causes, which can be idiopathic or familial, including deafness, or is very characteristic, w':
secondary to nephrocalcinosis, hypercalcaemia, renal parenchymal high-voltage slow waves
lesions, and vitamin D intoxication. lt is transient in infants. clinical jerks. This may ::
severely symptom atic. a
It is sporadic, and children can present with anorexia, vomiting, and measles at an early age
FTT. Chronic acidosis may lead to chronic bone disease, as there will the advent of vaccina:' : -
be excessive removal of calcium from bones to be secreted in the the virus in the brain, a.:
urine; this may also lead to renal calculi and polyuria. There will be a virus from sucfr patien:s
low level of potassium as a result of increased distal sodium. expressed; the M prc:: -
Potassium exchange can also cause polyuria. The potassium level cells and the protein ie',,:
can be very low, which may cause cardiac arrhythmias, flaccid lgG, are always high. u, :
paralysis, respiratory difficulties and coma. Sodium bicarbonate will for measles are presg::
correct acidosis completely and growth will return to normal. ln levels, as well as in tne s,
nephrocalcinosis the changes will take time and may not return to duration of the disease s
normal. A potassium supplement is required in cases where there is treatment yet but sup;:i
symptomatic hypokalaemia. important.
Measles is one of the p-e
Case 64 almost abolished since :'
1. c Measles lgM antibodies many countries. Manv -.
2. Giant cell pneumonitis whose parents decicje: -
vaccine for fear of au: s-
Measles has yet been proven b::,
and inflammatory bov.e
Presentation usua ly accompanies fever, respiratory tract symptoms,
I
from the face to the lower body and mainly limbs. Recovery is 3. Fasting and tesr D c:
usually rapid, but it is important that the patient has an unimpaired cortisol level, Gu a-
Answers 61-70 135
Case 65
1. b Hypoglycaemia
2. Ketotic hypoglycaemia
Fasting and test blood for: ketones, g!ucose, acetylcarnitine,
cortisol level, GH, and very-long-chain fatty acids
[r
I 138 100 Grey Cases in Paediatrics for MRCPCH
increased very slowly after initial administration. Looking for a cause Hereditary sensc
is important for genetic counselling and prognosis. Detailed syndrome)
investigations including muscle and skin biopsies are worthwhile to This syndrome is
help the parents and chiJd. common in Ash<
characterised b1,
and intermedioia
Case ffi myelinated fibre:
is lacking. The
1. a Hyperinflation with hypotonia, s
cr-
h lnterstitial granulation in both lung fields child grows up, c
2. d PCP
tears, skin blotch
3. h CD4/CD8 ratio
BP, cyclic vomiiir
a HIV antibody is due to apnoea
j Bronchial lavage for PCP and impaired gas
condition. Absen
lnterstitial pneumonitis lPneu mocystis carinii pneumonia) diagnostic criterli
Pneumocystis carinii has many features of a fungus. lmmune- on instillation of I
compromised children are most vulnerable to infection with this features in helpir
organism, Cystic fibrosis is another disease that will affect children in supportive, and c
th; first 4 years of life. Children with T-cell defects are more acute crises and r
vulnerable to infection, and this can lead to PCP. The clinical features prognosis is poor
of PCP develop very slowly and consist of dyspnoea on exertion or
tachypnoea at rest, a dry cough, breathlessness and cyanosis. There Case 70
are few auscultatory signs found and the CXR will show diffuse
infiltrates that can resemble a ground glass appearance. The blood 1. c Pin-poinr
gases will show a low oxygenation rate and low COr. Sputum, if a, Renal ar:
found, will contain a characteristic cyst, with special staining (silver I Renal US
methenamine). This ean also be found on the nasopharyngeal g Cranial !
aspirate, bronchial lavage or lung biopsy. Monoclonal antibodies will 2.h Polyarte:
l
help to identify P. carinii. A high dose of co-trimoxazole for a period m Mixed cc
of 14-21days should be given, and if there is no response, i.v. b SLE
pentamidine can be used. Steroids in HIV infeition and PCP show a
l reduction in the mortality rate for these conditions. Children with PCP Polyarteritis nodc
secondary to P. cariniishould be given prophylaxis (co-trimoxazole) This is a necrotis
either daily or three times per week. Other causative factors for PCP arteries. Multior.:r
are Mycoplasma pneumoniae, CMV, and Legionella' the form of angil
varied but usual...
weight loss and :
Case 59 of the disease. Ti-
1. Riley-Day syndrorne will produce syrn:
pathology in sma,
Rett syndrome
Cockayne syndrome
characterised by r
nuclear antiboCies
2. Spinaland brain MRI
be high but the cir
Awake and sleeP EEG
lesions, kidney, c.
ERG, EVP
Repeat skin biopsy
complications s-:
hypertensive re: -
3" Genetic counselling
be helpful, anc ::.
Refer to orthopaedic surgeon
considered.
Review by oPhthalmologist
Answers 6l-70 'l39
Case 7O
1. c Pin-point lesion biopsy
Renal artery angiography
?,
I Renat US
g CranialDW MRt
2. h Polyarteritis nodosa
m Mixed connective_tissue disorders
b SLE
Polyarteritis nodosa
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