Clinical Stations MRCPCH

Dr. Ahmed Mohamed Bakry

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Cardiology

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 General observation>> 4 Ds
1) Distress or not
2) Devices: o2 support- NGT

3) Dimensions: Average or below average

4) Dysmorphology: ‫بص في وش العيان‬

Turner Noonan

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Wiliam Alagille

CHARGE

VACTREL

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Marfan

Digorge

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 General exam
1)Nails:

clubbing cyanosis splinter hge

2) Fingers:

Osler nodules
3)Palm:

Janeway lesions Palmer crease

4)Radial pulse : Rate – Rhythm – Equality – Radioradial de lay –
Radiofemoral delay ) ‫) الزم تستاذن قبل ماتعمله‬- Water hummer pulse

5)Axilla : Assess puperty in age above 10 years

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6) Side of neck :

Webbed neck

JVP )‫ درجة وممكن متعملهاش بس تقولها في االخر‬45 ‫)الزم يكون العيان نايم‬
7) Eye : ‫هخلي المريض ينزل جفن عينه لتحت‬

Jaundice ( Alagille syndrome )

Redness ( Chronic hypoxemia )

Coloboma
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8) Nose :

Any snoring sound

9) Mouth :

Cyanosis ( ‫) طلع لسانك واقلبه‬

Dental hygiene

High arched palate

10) Lower limbs :

Tibial edema Toe clubbing

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 ‫‪Local Examination‬‬
‫‪Insepction‬‬
‫هتنزل علي ركبك وعينك علي في مستوي صدر العيان وتبص عليه من ثالث نواحي ( يمين‬
‫وشمال ومن عند رجله )‬
‫الزم تقول مكانها ومقاسها وقديمة والجديدة ‪1) Scars :‬‬

‫‪Median sternomy- Lateral thoracotomy- Drain scars‬‬

‫) ‪Pace maker scar ( left subcostal‬‬

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2) Bulge : ‫الزم تحدد مكانه مين او شمال‬

3) Pectus : Exacavatum- Craniatum

4) Nipple : widely spaced nipple

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 Palpation
1) Apex :
‫ببص بعيني علي مكانها واول ماالقيها هحط ايدي اليمين وفي نفس الوقت‬
‫هحط ايدي الشمال الناحية التانية‬

2) Thrill :
In 6 areas: Apex – LLSE- P- A- Suprasternal – Carotid
Once detected means Murmur grade 4
Done by palmer aspects of fingers
3) Parasternal heave :
Means Ventricular hypertrophy

4) Palpable S2:
in PHT

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 Ascultation
Must be done in same 6 areas of palpation
 Your comment on S1, S2 and any heared murmur
 If heared murmur in area , listen other areas and then back to
area of murmur
 Any murmur must comment on site of max intensity , radiation
and relation to respiration and position
 Any murmur in RT side of heart increased with insp
 Any murmur in LT side of heart increased with EXP
 Any aortic murmur increased with leaning forward
 Any mitral murmur increased with left lateral
 Grading of murmur from 1 to 6 >> 1 : need cardiologist with
cardio steth…2: med.. 3: loud without thrill …4,5 : loud with
thrill..6: audible without steth
 For example : MR murmur is PSM grade 4 radiating to axilla
increased with expiration and left lateral position
 Donot forget to ascultate the back for radiated murmurs and
basal lung creps

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 I would to complete my exam by :
‫دي هتقولها بعد السماعة علي طول‬
1) Liver exam: to detect any hepatomegaly

2) 4 Limb BP :

3) O2 saturation measurement

4) Peripheral pulsations

5) Tanner staging

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 Common cases in cardio stations
1) Cyanosis with clubbing
A) Fallot tetralogy : Murmur of PS
B) Complex cyanotic HD: Any murmur other than Ps
C) Esinmenger syndrome: No murmur..+++S2
2) Pink with med sternotomy scar
A) Corrected Fallot : Residual murmur of PS
B) Corrected VSD or AVSD: Residual murmur of MR
3) Pink without med sternotomy scar
A) AS B) AR
C) PS D) PDA
E) MR F) VSD

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 Aortic regurge
 Associated S: Marfan- ED- RHD
 Pulse : pounding>>WHP
 Neck : Prominent carotid pulsation>>Corrigan>>
Head nodding
 Thrill on 2nd aortic area ( 3rd LT ICS )
 Murmur: diastolic , 3rd and 4th LSB , increased with
exp and leaning forward
 Investigations : Echo ( D )- ECG ( LVH )- CXR (
cardiomegaly )
 Complications : Left vent failure – exercise
intolerance – ischemia due to inability to maintain
diastolic pressure
 Treatment: Valvoplasty + life long anticoagulant
 Any special notes: Diagnosed mainly by peripheral
signs + pistol shot ( heared pounding pulse esp on
femoral) - Limitation of sternous activity due to
diastolic dysfunction( coronary filling occur during
during diastole )

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 Aortic stenosis
 Associated syndrome : Wiliam – Turner
 Pulse : Thready + RRD or RFD
 Peripheral signs if double aortic lesion
 Neck : Thrill on carotids
 Apex: Forciple apex – may be shifted down and out ( if LVH )
 Murmur : Systolic 2nd RT ICS increased with exp and leaning forward
 Investigations : Echo – ECG ( LVH e ischemia )- CXR ( LVH )
 TTT : Ballon – Surgery + anticoagulant if ( Failed ballon- supra or
subvalvular stenosis- thickened valvular leaflet – pressure across valve
> 60
 Advice : Limitation of exercise if pressure across the valve > 60 – Clue
of station is fainting attack tell meet the cardiologist
Coartacation of Aorta
 Associated syndrome : Turner
 Pulse : Thready + RRD or RFD
 Neck : Thrill on carotid
 Apex : Forciple
 Murmur : Systolic on 2nd RT ICS radiated to the back ( below left
scapula ) , increased with exp and leaning forward
 Investigations : Echo – ECG – CXR
 TTT : Baloon – Resection with end to end anastomosis- subclavian flab (
may be there residual HTN after surgery )

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 Mitral regurge
 Associated S : Marfan – RHD
 Pulse, Neck : NAD
 Murmur : PSM radiating to axilla increased with exp and
left lateral position
 Invest : Eho- ECG, CXR: LVH
 TTT: Symptomatic >>> Surgery if failed
VSD
 Associated S: Down – Dextrocardia
 Pulse, neck : NAD
 Apex: Hyperdynamic
 Murmur: PSM at LLSE propagated allover pericardium
 Small VSD : child is growing well – no signs of HF – harsh
murmur – S2 normal
 Investigations : Echo – CXR: LVH or BVH , ++BVMs – ECG(
LVH or BVH )
 TTT: If small : wait and see…Large : Surgery….Med: if not
symptomtic wait and see , if symptomatic surgery
 Med : Dirutics + ACE+ Nutritional support
 Surgery : If failed med….FTT…Finistrated
septum..Pulmonary to systemic flow > 2 : 1
 Pulmonary artery banding : Donot say unless requested
..done if large VSD + not tolerating surgery

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 PDA
 Associated : Preterm
 Pulse : Pounding
 Neck : Prominent carotid
 Apex: Hyperdyanmic
 Murmur : Machinary
 Invest : Echo – CXR( ++CTR- plethora )- ECG ( LVH or BVH )
 TTT: Ibuprufen>> if failed surgery
Blue Fallot tetralogy
 Small for GA regarding WT and HT
 Clubbing
 Conj injection
 Lateral thoracotomy scar( RT, LT or both )
 PS murmur + Subclavian murmur of BT shunt
 HCT : is important investigations
 CXR : boat shaped heart, oligemia – ECG : RVH
 Complications : FTT..arrythmia..thrombosis
 DD: palliative congenital cyanotic HD
 Complications of F4 : Cyanotic spells – FTT – Exertional dyspnea –
cerebral thrombosis – brain abscess – arrhythmia – polycythemia
 Cyanotic spells: Squating or knee to chest in younger children -
O2 100 % - Morhine - BB ( if more severe >> noradrenaline ) –
Hydration - HCO3: if pt is acidotic

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 Pink Fallot tetralogy
 No signs could be detected by G.exam
 Med sternotomy scar : ‫الزم تبقي موجودة‬
 Lateral thoracotomy scar : ‫ممكن تبقي موجودة‬
 Residual PS murmur
 DD: Totally corrected cyanotic HD – Large VSD or AVSD ( residual MR
murmur ) – Valve replacement ( Click sound )
Blue + med ster sacar
 Compex cyanotic HD partially treated
 Failed correction
 Palliative TOF : Donot say unless requested more
Pink + lateral thoracotomy
 PDA ( LT )
 COA ( LT )
 Pulmonary artey banding ( LT )
 Tracheoesophageal fistula repair ( RT )
 Lobectomy ( Both )

Esimenger syndrome
 Older children
 No murmur
 No scar
 +++ S2
 Palpable S2
 Parasteral heave of RVH

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 Examine pulse task ( come once in Oman )
 The candidate couldnot feel radial and brachial pulse bilaterally
 Two murmurs detected on heart exam ( PS, BT shunt)
 Modified BT shunt : felt pulse bil in Radial and Brachial
Heart failure
 FTT…. ++ RR …. ++ HR
 Cardiomegaly…hyperdynamic apex..galloping
 LL edema..tender liver…bil basal creps
 TTT: Dirutics – ACE – Nutritional support
Multidisplinary team
 Cardiologist
 Nutriotist
 Dentist
 Liase to school
 Support to the family
 Team of associated syndrome
Advice
 Good nutrition
 Good oral hygiene
 Avoid piercing and tattooing
 Avoid dehydration in cyanotic HD
 Avoid sternous activity in AS
 AB prophylaxis in IE

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 Example for Blue TOF presentation
 Today I examine Ahmed , he is 8 years old, he is looking
dysmorphic. He is small for age regarding WT and HT. I believe
he is cyanotic..there is clubbing grade 4 ..he has injected
conjunctiva and CC in his tongue
 By local exam , he has lateral thoracoctomy scar extending from
PAL l to AAL with small scar below it mostly for drain .. I could
detect apex on 5th ICS MCL..I could feel thrill on Pulmonary area..I
could hear murmur best heared on 2nd LT ICS, radiating to back ,
frade 4 as I could feel thrill
 There is no peripheral signs suggestive of IE
 So the above mentioned findings suggestive that this patient jad
congenital cyanotic HD mostly TOF
 I would like to confirm my suggestion by Echo, CXR, ECG , CBC,
Coagulation profile and neurological exam

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Chest ( AB )

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 General observation
1) He can talk or not : if cannot complete sentences mean
distresS
2) Speech and mentality
3) 4Ds:
 Dysmorhic:

Cushingoid fac TCS with traceostomy

Pieere Robin syndrome with tracheostomy

MPS
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  Distress or not: ‫مش معناها نفسه سريع فقط‬

Persistent coug Tripot position

Noisy breathing ( CF – PCD ) Audible wheezing

 Devices :

Spacer with inhaler Nebulizer

Sputum pot Creon ( CF ttt )

 Dimensions : WT, HT : decresed in CLD but in BA with
cushingoid , WT will be N or increased and HT will be
decreased…….Donot miss increased HC in PCD and KS
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 General exam
1) Nails :

Clubbing and cyanosis

2) Fingers :

Tremors ( salb excess )

3) Forearm :

Pulse ( ++ HR in salb excess ) Bracelet

Scratch marks ( Eczema )

4) Forearm :

BCG scar

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5) Axilla : Look for LN, asses puperty and acanthosis
negricans
6) Head :

Macrocephaly in PCD and KS

7) Eye:

Jaundice ( CF )

Talenegectasia, darkness below eye and allergic

shinners ( Allergy symptoms with BA )
8) Nose :

Polyp and snoring sound in CF , PCD and KS

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9) Mouth :

Cyanosis Cleft palate Oral thrush( steroid SE

10) Ear :

Hearing aid( PCD and KS )

11) Neck

Tracheostomy Acanthosis negricans ( steroid )

VP shunt( PCD and KS )

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 Local examination
Inspection
1)RR: ‫هتعده وانت باصص في الساعة لونسيته تسقط‬
2)Scar : ‫عشان تشوفها الزم تطلب من العيان يرفع ايده فوق راسه‬

Lateral thoracotomy
3)Deformity:

Craniatum Excavatums

4)Harrison sulcus: means chronic RD

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 Palpation EAT + S2
1)Expansion: ( Restrictive or not )>>With Thumb in middle line, I will
encircle the chest in two areas, infraclavicular and inframammary and ask
the pt to take a deep breath in and out

2)Apex: to check its site only

3)TVF : with both hands above nipple line and ask pt to say 99

4)Trachea : when patient is settting to detect any shifting, you must take
a permission before exam as it is painful
5)Palpable S2 : in PHT
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 Percusion
 RT and LT Supraclav, clav , subclav, 1st and 2nd ICS , all
checked in MCL
 5th ICS AAL
 Result : resonant : N… - hyperresonant in BA - Dull in
consolidation.. - stony dullness in PE and lobectomy
Ascultation
 Ascultate chest only in same areas of percussion except
clav
 Comment on AE bil , Breathing sound and any added
sounds
Back
 Inspection : for any deformity ( scoliosis- kyphosis) –
Scar of lobectomy – Interscapular pad of fat ( steroids )
 Palpation : Expansion only , my hand encircling back of
pt below scapula and both thumbs in middle line , and
ask the pt to take a deep breath in and out
 Percusion: Ask the pt to HUG him self, my hand are
parrerel to the back between scapula and perpendicular
to the chest below scapula
 Ascultation : All lung zones, bil

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 I would like to complete my exam by
1) 3L :
 LN
 Liver
 LL
2) 3S :
 Saturation
 Spirometry
 Sputum analysis
3) 2P :
 PEFR
 BP
These 3 items on Presentation of case must exclude and
mention even if not present:
1) Clubbing
2) Cyanosis
3) Distress

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 Chronic suppurative lung disease
 All of them share the following criteria:
 Clubbing + or – cyanosis
 FTT
 Chesty cough
 Conslidation : Dull on percussion, decreased AE, bronchial breathing and creps
 Gastrostomy + or –
 Different in the following:
 PCD : Macrocephaly, VP shunt, Hearing aid and snoring
 KS: PCD+ Dextrocardia
 CF : Jaundice+ Creon
 IGA def: Eczematous rash
 FB : Localized at middle zone
 Investigations of CSLD
 To confirm CSLD: CXR- High resolution CT
 To search for cause :
 CF: sweat chloride test
 PCD: Nasal brush test for EM and photometry
 KS: Echo
 FB: Rigid bronchoscopy
 ID: Immunological workup
 If no reachable cause: TB testing- A1AT
 To search for association and complication:
 CF: Annual screening
 PCD : MRI brain, hearing assesemet and CT nose

 Treatment of CSLD
 TTT of cause if possible
 Non med :
 Educate family about nature of disease
 Avoidance of dust, smoking and pollens
 Physiotherapy
 Med: BD, Mucolytics, Abs( for exacerbation and prophylaxis ), annual flu vaccine - > 15
consult about giving covid vaccine
 Surgical : Lobectomy

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 Chest cases without clubbing
 Asthma:
 Device : inhaler, spacer, neb
 Other allergies: Eczema, shinners
 Steroid toxicity signs
 ++RR
 ++ APD
 ++inflated chest
 +- Harrison sulcus
 ++ resonance
 ++ wheezes bil
 Early suppurative lung disease: controlled but have lobectomy scar
 Acute condition : resolving pneumonia

Steroid toxicity
 Acne
 Hirsutism
 Acanthosis negricans
 Precious puperty
 Interscapular pad of fat
 Cushingoid face
 ++ BP and blood sugar

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Abdomen

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 Approach of abdomen station
 Enter the room – wash hands – introduce yourself – make a rapport
with the child and during it what about speech and mentality
 Measures
 Unusual features ?
 Did he bring anything to examination room ?
 General exam
 Local exam
 Association
 I would like to complete my exam by ……..
General examination
o Nail : clubbing ( degree ) – cyanosis – koilonychia – white nails
o Hand : pulse ( rate only ) – pallor – palmer erythema – flapping tremors
o Arm : cannulation scars – AVF scar – depigmentation scar of dysferral
injections – insulin site injections
o Axilla : puberty – LN after permission
o Eye : pallor – jaundice – Episcleritis
o Mouth : ulcers – pigmentation – oral hygiene – gum hyperplasia
o Neck : LN – Acanthosis negricans

Clubbing white nails koilonychias palmer erythema

AVF scar mouth ulcers jaundice

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 Local examination
Inspection
I will kneel down beside the patient with my eyes tangential to the
abdomen from RT side , LT side and foot the bed
o Abdominal distension
o Scratch marks
o Umbilicus , must comment on site , shape and dilated veins
o Hernias
o Any device attached , scar around and skin clean or not
o Chest : gynecomastia – central line – spider nevi
o Scars on abdomen

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 Palpation
 Superficial palpation : for tenderness or masses
 Ask about pain and start away from it
 I will tell the patient if he feel any pain tell me with my eyes on his
face
 Anticlock wise for 9 areas : 7 > 4 > 1 > 2 > 3 > 6 > 9 > 8 > 5

 Deep palpation : synchronized with respiration of the patient – for

detection of masses or organomegaly
Liver:
 Rt lobe lower border : with side of index finger or by tip of fingers , from
Rt iliac fossa to take a deep breath , if you felt you must comment on
surface , consistency , size , tender or not
 Upper borde by percussion : from 2 nd intercostal space MCL downward
to reach upper border, if dullness ask the patient to take a deep breath
and hold it , so become resonant >> this is the upper border
 Left lobe : from below umbilicus upward to xiphisternum

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 Spleen : even there is a scar >> from Rt iliac fossa to feel it >>
measure from this point to LT subcostal margin ( Diagonal, outward
and upward )>> if I cannot feel , do it by percussion or lie the patient
on RT side

Kidney : by ballotment

 How do you differentiate

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Causes of organomegaly

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 Percussion
 For midline mass from symphysis pubis to xiphisternum
 Confirm lower border of organs
 For ascites :
 Mild: knee chest position
 Moderate: shifting dullness >> from xiphisternum to umbilicus with
hand horizontal and grom umbilicus laterally with hand vertically >>
continue to reach dullness and ask him to lie on opposite side >> if still
dull , organomegaly – if resonant , moderate ascites
 Severe : transmitted thrill

Auscultation
o Renal bruit: 2-5 cm lateral to umbilicus ( may be heared also in renal angle )
o Intestinal sound : especially at macburney point

Back
 When he sit , look at divercation of recti - Renal angel for tenderness -
Sacral edema after permission

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 Association
 Cervical lymph nodes
 Lower limb edema : 15 sec on both sides , pitting or not and
must comment on level
 Erythema nodusum

I would like to complete my exam by

 Plot WT and HT on growth chart
 Tanner staging
 After permission: Genitalia – Anal area for any tag or fistula –
Inguinal area for any hernia and LNs – Buttocks for any wasting

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 Approach to abdominal cases
 Clubbed :
o With jaundice
 Not palpable liver + PHT >> Cirrhosis
 Hepatomegaly + PHT : all of them can cause LCF
 Congenital hepatic fibrosis
 Haemosiderosis
 GSD
 Wilson
o Without jauncice >>> IBD
Not clubbed:
o With +- pallor only
 With organomegaly
 Liver and kidney : Von Gierke disease
 Liver and spleen : MPS
 Spleen mainly with tiny liver : Gaucher disease
 No organomegaly
 Nephrotic syndrome
 Celiac disease
 Kidney transplantation
o With pallor and jaundice
 Liver > spleen : thalassemia
 Only liver : SCD ( after 5 years )
 Only spleen : HS
 Spleen > Liver : Sickle thalassemic

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 Sickle cell disease
 Opening statements : history of hematuria – history of vision problem –
dactylitis ( ‫ – ) صورة‬limping with knee pain – hempiplegia
 Africoarabian AR – usually presented after 6 months – exacerbated by cold,
dehydration, hypoxia and infection
 Small for age regarding WT and HT
 Pallor and jaundice
 Multiple cannulation scar – No clubbing
 +- kocher scar - Hepatomegaly +- splenomegaly ( if < 5 years ) or
splenectomy scar
 Association : CNS: Hemiplegia – CN affection - MSK : Leg ulcers – AVN of
femoral head - Chest : Infection - Eye : Retinopathy - Tanner staging - Plot
 Problem list : chronic hemolytic anemia – acute hemolytic crisis – splenic
sequestration crisis – vasooclussive crisis – long term complication
 Long term complication : delayed growth and puberty – leg ulcers –
retinopathy and blindness – cholelithiasis – renal impairement – stroke –
cardiomyopathy
 Vasooclussive crisis:
 Recurrent acute pain : abdominal pain – bone pain – dactylitis
 Functional asplenia : at age of 1 year with high risk of infection from
encapsulated organisms
 Acute chest syndrome : severe chest pain
 Stroke : hemiplegia – CN involvement
 Others : priapism – AVN of femoral head
 Treated by : admition – warm – O2 – good hydration – IV analegesics
and antibiotics – if indicated blood transfusion or exchange transfusion

 Causes of abdominal pain in SCD : occlusive crisis – lower lobe pneumonia

– gall stones – liver affection – sequestration crisis – RVT – SE of NSAIDs
 Causes of splenomegaly un SCD : < 5 Y – sequestration crisis – sickle
thalassemia – portal HTN

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 Investigation :
 Diagnostic : HB electrophoresis ( no HbA – HbS > 90 % - HbF 8 to 10 % -
HbA2 2 %) – normocytic normochromic anemia - ++ retics – Blood film
 Lab : LFT – TSB – DSB – RFT – Virology ( HBV , HCV )
 Imaging : Abd U/S – Transcranial U/S ( after 2 years of age ) – MRS – X
ray hip – X ray joints of hand – Echo - Fundus examination
 Treatment :
 Folic acid
 Hydoxyurea : increase HbF to > 30% - used from 9 months - indicated in
stroke , acute chest syndrome – painful crisis in 1 Y – admission in
hospital – SE >>> thrombocytopenia, leucopenia so CBC regularely
 Immunization and prophylactic antibiotics
 Blood transfusion : indicated in sequestration and aplastic crisis
 Exchange transfusion : priapism – acute chest syndrome – stroke
 Vasoocclussive crisis : admission – warming – O2 – good hydration – IV
antibiotics and analgesics – if indicated blood transfusion or exchange
transfusion
 Advice mother : keep warm and avoid cold weather – good hydration –
avoid infection and overcrowded areas – avoid high altitudes – check
tummy if < 5 years – genetic counselling

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 Hereditary spherocytosis
 AD – Caucasian
 No clubbing
 Pallor and jaundice if splenomegaly present
 Mild pallor and jaundice if splenectomy
 Scar : kocher for cholecystectomy – Splenectomy scar
 Spleneomagaly
 I would like to complete exam by : as general approach + examine
parents
 Problem list : CHA – Splenomegaly – Aplastic crisis
 Investigations :
 CBC : normocytic normochromic anemia – reticulocytosis
 EMA test
 Parvovirus : if aplastic crisis
 U/S abdomen
 Treatment :
 Folic acid
 Splenectomy
 Genetic counselling
 Family screening

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 Thalassemia
 Small for age regarding WT and HT - Bronzed colour
 Thalassemic facies : frontal bossing – maxillary hyperplasia – big wide spaced teeth
 Pallor and jaundice
 Porta cath
 Cannulation scars
 Hypopigmented scar of dysferral injection - +- Splenectomy scar
 Hepatosplenomegaly or ++ +liver + splenectomy scar
 Investigations:
o FBC : micocytic hypochromic anemia - ++ retics - Blood film : anisocytosis –
poiklocytosis – nucleated cells - HB electrophoresis : HbF 90 % - No HbA –
Normal HbA
o Iron profile - Bone profile - LFT – Virology , HBV and HCV - TFT
o Imaging : U/S abdomen - U/S neck - Echo – Dexa scan
o vision and hearing assessment
o Annual review : Anthroprometric measurements – puberty - LFT – Virology -
bone profile and dexa scan – calcium profile
 Causes of hepatomegaly in thalassemia: Extra medullary hematopoiesis – Anemic HF
– Hepatitis – haemosiderosis
 Causes of bone pain in thalassemia: hypoparathroidism – medullary expansion – SE
of oral chelators
 Causes of HF in thalassemia : Anemia – cardiomyopathy of iron overload – acute
complications of blood transfusion
 Complications of thalassemia : HSM – Expansion of bone and pathological fractures –
impaired growth and puberty – complication of ttt

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 Treatment :
o Hypertransfusion regime :
 First time when HB < 6 – 7 gm /dl - Done every 4 – 6 weeks -Target is 10
gm /dl
 Value : keep hemodynamic stability so prevent hyperexpansion – maintain
normal growth – prevent splenomegaly – decrease iron absorption
 Indication of more frequent transfusion : hypersplenism – RBCs antibody
formation – concurrent blood loss
 Complications : antibody formation ( difficult to find cross matched blood )
– transmission of hepatitis B,C and HIV – Iron overload ( cardiac failure and
arrhythmia, liver cirrhosis, DM , hypothyroidism, hypoparathyroidism ,
testicular deposition, arthritis and skin hyperpigmentation ) – Needle
phobia – HF
o Chelating agent:
 ++ urinary excretion of iron
 Taken with Vit C to enhance the effect
 Indicated when ferritin reach 800 – 1000 microgram /L or after 12 – 15
transfusion
 SC ( desferal ) : Given over 8 to 12 H - Acute complications: pain, fever,
tachycardia and flushing - Chronic complications: night blindness –
deafness – depigmentation – osteoporosis – thrombocytopenia and
leucopenia – Yersinia infection - Contraindicated in renal impairement
 Oral chelators : Ferripox : effective in cardiac siderosis -Deferasirox :
effective in liver and cardiac siderosis - SE : GIT upset – arthropathy –
neutropenia and thrombocytopenia – teratogenicity
 Monitor of chelators : iron profile and LFT every 6 M – RFT – Skeletal
survey – Slit lamp and audiometry
o Splenectomy :
 Indications : huge spleen causing discomfort or affecting breathing –
hypersplenism with pancytopenia – growth failure – BT > 240 ml / kg /year
 Precautions : better to be after 5 years of age – pencillin V for life – annual
flu vaccine – meningococcal, pneumococcal and HIB according to
vaccination schedule – avoid infections – wear a bracelet
o Folic acid
o BMT : curative
o Gene therapy

48
 Glycogen storage disease
 Small for age and sex regarding WT and HT
 +- NGT
 Doll like face
 No clubbing – No jaundice or pallor and jaundice if LCF occur
 Porta cath if taking enzyme replacement
 Protuberant abdomen
 +- Scar of liver biopsy - Bruises
 Huge hepatomegaly - Renomegaly
 Association: Gout – Xanthoma – RD due to hypotonia –
Cardiomyopathy – BP – Infection due to neutropenia ( type 1 B )
 Take history about hypoglycemia and recurrent infection
 Bed side test : RBS – BP ( renomegaly )
 Investigations :
o Lab : RBS – FBC ( platelet dysfuncftion – neutropenia and
leukocyte defect in type 1 B ) – Increased lactate , urate And TG
o Enzyme assay: e in G-6 phosphatase
o Liver biopsy
o Genotyping
o Imaging : Abdominal U/S - Echocardiography
 Treatment :
 Avoid hypoglycemia( not responsive to glucagon ) : Provide
continuous feeding and overnight may be through NGT – Corn
starch – IV dextrose
 Avoid trauma and inform parents about easy bruising
 Genetic counselling
 TTT of complications : hyperuricemia – hyperlipidemia –
hepatoma – focal glomerulosclerosis
 Curative: liver transplantation

49
50
51
Gaucher disease

52
 Inflammatory bowel disease ( Chron’s disease )
 Small for age regarding WT and HT
 Delayed puberty
 Clubbing
 Pallor +- jaundice in >> ( AIHA – Gall stone – Autoimmune hepatitis )
 Red eye
 Mouth ulcers
 +- scar of laparotomy ( acute obstruction )
 Pain or mass ( RT or LT )
 Association :
 Uvetis – episcleritis
 Arthritis – osteoporosis
 Erythema nodosum – pyoderma gangrenosum
 Pancreatitis – carcinoma of bile duct
 Perianal tag
 Renal stones ( uric – oxalate )
 Migraine – pseudotumor cerebri
 Presentation
o Abdominal pain – Diarrhea – WT loss – Delayed puberty
o Skin manifestation
o Perianal skin tag
 Diagnosis:
 Clinical
 Inflammatory markers : CBC – CRP – ESR
 Stool calprotectin
 Upper and lower endoscopy ( transmural inflammation with skip
lesions )
 Causes of arthritis in IBD : disease activity – liver disease – steroid – vitamin
deficiency
 Causes of chest pain in IBD : pleurisy – pericarditis – cardiomyopathy –
anemia – infliximab

53
 Treatment :
o First line induction of remission : Glucocorticoids >>> Enteral nutrition
>>> Budesonide rectal >>> 5 Amino salicylic acid
o Second line induction , if no response on first line or > 2 exacerbation in
year, add on therapy : Azathioprine >> 6 Mercaptopurine >>
Methotrexate >> Monolonal antibody , infliximab primalugnant used
only in severe cases
o Maintenance:
 Test for TB before use
 No maintenance with steroid
 Done by Azatioprine or 6 mercaptopurine
 If MTX used in induction, complete maintenance by it
o Cipro and metronidazole >>> perianal fistula or abscess
o Surgery :
 Abscess not responding to antiobiotics
 Toxic megacolon
 Perforation
 Full ttt with no response
o MDT : GIT – Dietitian – Ophtha – Cardio – Liaise with school and
support to the family

54
 Wilson disease
 AR - decrease excertion of copper - Appear at age of 5 years
 Opening statement : deterioration of school performance – Extrapyramidal
movements
 Clubbing – jaundice
 Liver: acute hepatitis – chronic active hepatitis – portal HTN – fulminant
hepatic failure
 Eye : kayser flesher ring – sunflower cataract
 Kidney : RTA – renal stones
 Blood : hemolytic anemia ( deposition of copper in RBCs )
 CNS : BG affection , tremors – chorea – rigidity
 Others : cardiomyopathy – pancratitis – hypothyroidism – infertility
 Diagnosis :
 Decreased plasma cerublasmin
 Increased 24 hour urinary copper excretion
 Challenge with D-pencillamine
 Liver biopsy
 Genetic testing
 Family screening by genetic testing or serum cerublasmin or urinary
copper
 FBC – LFT – RFT – Calcium profile – Amylase
 U/S abdomen
 Slit lamp examination
 MRI brain : increased density in BG
 Treatment :
o Oral chelating agents :
 D-pencillamine : vit B6 and E given with it – SE : SLE ,
goodpasteure syndrome and NS
 Trientine : less side effects
o Zinc : reduce copper absorption from the gut
o Diet low in copper : avoid chocolate, shellfish, liver and nuts
55
56
 Portal hypertension
 Small for age regarding WT and HT
 Pallor and jaundice
 +- Clubbing
 Caput medusa
 +- Scar of splenectomy
 Huge splenomegaly +- hepatomegaly
 Ascites +- LL edema
 If opening statement is hematemesis , you must search for signs of shock
>> pale cold skin – tachycardia – intial hypertension then hypotension –
rapid breathing – decreased urine output
 Problem list in PHT:
 Hypersplenism
 Portosystemic shunt : esophageal varices – haemorrhoids
 Causes of PHT :
o Prehepatic:
 PVT :
 Normal sized liver
 No stigmata of liver disease
o Intrahepatic :
 Pre sinusoidal : neoplasia – hepatic cyst – schistomiasis
 Sinusoidal :
 Congenital hepatic fibrosis : hepatomegaly with normal
liver function with no stigmata of liver disease –
splenomegaly – polycystic kidney disease
 Alpha one antitrypsin deficiency
 Post sinusoidal : veno-occulusive disease
o Posthepatic :
 Budd chiari syndrome
 RT ventricular failure
 Constrictive pericarditis

57
58
Liver cirrhosis

59
60
 Intrahepatic biliary atresia
 Dysmorphic features : prominent forehead – deep seated eye –
upward slopping palpebral fissure
 Pallor and jaundice
 Scratch marks on skin of pruritis
 Hepatomegaly
 Back : hemivertebrae
 CVS : pulmonary stenosis
 Eye : posterior embryotoxin by slit lamp
 DD of jaundice at small age :
o Breast milk jaundice
o EHBA
o TPN jaundice

61
EHBA and liver transplantation

62
63
64
65
66
67
68
Neurology
69
 General observation
1) Vitals
2) 2 M : Mentality – Movement ( static as chorea, athetosis ,
dystonia or Kinetic ( ataxia )
3) Posiotion:

Hypotonic Scissoring

Windswipt Flexion
4) 6S:
A) Speech pattern: Staccato- Slurred ( with ataxia )
B) Shake hand if possible: Mytonic dystrophy
C) Seventh nerve: if Smile will appear + if found you will do exam at
the end

70
D) Squint: If present will do exam at end

E) Still in nappies:

F) Skin : SWS, NF, TS, Pallor - jaundice ( SCD ), ITP- TTP- Haemophilia

SWS NF

TS Purpura, ecchymosis( ITP, TTP, Haemophilia )

Jaundice , pallor ( SCD

71
5) 3D :
A) Dysmorhic or not
B) Dimensions: WT, HT and HC + VP shunt , check
bilaterally

C) Devices:

Craches

Wheelchair ( manual or automatic , feet and head support or not)

Glasses

Hearing aid

72
 General examination LL SSGB
‫هتلف حوالين رجله من كل الجهات‬
1) Some below trousers and exposure : till midthigh
2) Standing: 3S + Foot deformity
 Scars : tendon release scar- thigh muscle biopsy scar

Tendon release

Muscle biopsy
 Symmetry : Size – Lenghth

DMD

Unilateral wasting

Leg length discrepancy

Inverted chamaign ( CMT )

73
  Special shoes:

 Foot deformity : NB: claw hand with pes cavus

Pes cavus ( CMT- FA )

Claw hand ( CMT )

3) Gait : ‫ الزم يكون بيعرف يمشي‬- ‫الزم تشوف فيديوهات‬

Normal- tandom- Tip toe
 Spastic gait : hemiplegia – diplgia

74
 Hemi : arm flexed , knee extended , fog sign
Dihemi : same as hemi but bilateral

Diplegic : flexion of hip and knee , tip toeing,

intoeing, arm in garden sign and may scar of
dislocated hip

 Waddling gait: if present you must do Gower test- note

lordosis in pic
Caused by myopathy :
 DMD
 Hypothyroidism
 Cushing
 Richets
 Achondroplasia
) ‫كتف طالع كتف نازل رجل طالعة رجل نازلة ( مشية الحامل او مشية البطة‬

75
  Ataxic gait : if present you must do tandem gait
and Romberg test

Romberg test : I must close to the pt to support him if he

start to fall, I will ask the pt to stand on narrow base while
he is opening his eyes, is he steady? If yes donot go to
second step >> then I will ask him to close his eyes, is he
steady
Explanation: Positive if occur during close
Cannot be done : if occur during open eye

76
4) Back :
 Still in nabbies
 Scoliosis: Positional or static ( lean forward on
the crouch )

 Scar :

Spina bifida scar

 Skin lesions: NF , TS

77
 Local examination( Lower limb )
‫علي الناحيتين مع المقارنة‬
IT PR CS
 Inspection:
 Skin : Scar
 Muscle : wasting
 Bone : deformity
 Limb length discrepancy
 Tone : I will asses the tone of LL bil by doing >>
 Rolling of thigh
 Flexion , extension of knee and ankle

Rolling of thigh

F, E of knee

F, E of ankle
78
 Power : I will compare both sides to assess unil or bil, proximal or
distal and do grading
‫الزم تشوف فيديو‬

NB: if patient can walk so power more than 3 , I will do against resistance

1) Hip:
I well ask him to raise his legs
 If he can >> so grade 3 given, then I will ask him to do
against resistance Flexion ( ‫) ايدك فوق‬, extension ( ‫ايدك تحت‬
) abduction ( ‫ ) ايدك من برة‬and adduction ( ‫) ايدك من جوة‬
 If he cannot >> so grade below 3, then he will do
abduction and adduction with gravity elimination
2) Knee :
I will ask him to do flexion and extension against gravity
 If he can do >> so power > 3 I will do same against
resistance
 If he cannot >> so power < 3 he will do same with gravity
elimination
3) Ankle :
I will ask him to do dorsiflexion and planterflexion against
resistance
 If he can do >> so power > 3 I will do same against gravity
 If he cannot >> so power < 3 he will do same with gravity
elimination

79
 Reflexes :
 I will be sure no scar on tendon
 Expose muscle
 Palpate tendon
 Hold the hammer from distal third , perpendicular to tendon
 Tap on it , movement from wrist and your eyes on muscle
 Knee reflex:
 Knee semiflexed
 Heel just touch
 Palpate tendon and tap
 Your eyes on thigh muscles
 Ankle reflex:
 Hip , externally rotated
 Semi flexion of knee
 Dorsiflexion of ankle
 Tap on tedoachilis and your eyes on calf muscles

 Babinski : Done by your thumb

 Preferred to done after tone and power
 Done in all cases of hypotonia or hypertonia
 For example :
 UMNL : Hypertonia, hyperrelexia , + ve Babinski
 FA: Hypotonia , hyporeflxia and + ve Babinski

 Clonus : Done in case if hypertonia only, I will ask the pt to flex his knee
then planter flexion twice then forward pushing
80
 Coordination : ‫مشي كعب رجلك علي قصبة رجلك‬
 Ask him to touch knee with heel down to whole chin of tibia
 If pt is MR or power below 3 >>> cannot do
 Affected in ataxia , spasticity and muscle disease

 Sensation: done only if LMNL

 Deep sensation:
 If Romberg test done with gait exam, no need to do
 With pt opening his eyes, I will hold his big toe and teach
him directions , up and down then I ask him to close his
eyes and make same directions and see if he know or not

 Superficial sensation :
 When he is opening his eyes , I put a piece of cotton on his forehead and
teach him this sensation, then ask him to close his eyes and test for
sensory level

81
 ‫هتختار نقطة مميزة لكل ديرماتوم وبعد كدة هتختار نقطة البداية لو حاسس‬
‫ لو حاسس هتطلع لفوق‬,,,,‫هتنزل تحت‬

 S2: Back of knee L1

L2
 S1: Little toe
 L5: Big toe L3
 L4: Leg medially ( start ) L4
 L3: Knee L5
 L2: Thigh
S1
 L1: Groin S2

 S3, S4, S5 : Perianal area , not done for dignity of the pt

 If task is LL exam , I will complete exam by CN and UL >> if the

case is ataxia , I will do coordination in UL – if case is myopathy , I
will do power in UL – if others I will do power and reflexes

82
 Lower limb cases
1)UMNL
A)Hemiplegia ( For example LT side )
 Observation :
 Abnormal speech
 Fisting of left UL
 Craches
 Squint +- 7th CN afeection
 G. Exam :
 Abnormal left shoes or special shoes
 Wasting of LT lower limb
 Tendon release old scar at back of LT knee, measuring 4x4 cm
 Leg length discrepancy
 Spastic circumduction gait affecting LT side associated
with flexion attitude of left UL and fisting of LT hand
 Local exam :
 Decreased power at left sisde
 Hypertonia and hyperreflexia at left side
 + Ve Babinski and – Ve clonus at left side
 Normal power, tone and reflexes at RT side
 Intact sensation at both sides
 Coordination affected due to power and tone , not
cerebellar cause
NB: Normotonia or hypotonia may be present in case of good
physiotherapy, Baclofen, Botulinium toxins , tendon release or
selective dorsal rhisotomy
83
 How to present these findings
Today , I examine sara, she is 11 years old , she is well
communicating . I observe she had special position in form of
flexion attitude in her LT UL with fisting of left hand . I believe she
had some sort of facial deviation when she is talking. With general
exam, I believe she had leg discrepancy in length and muscle bulk
at LT side .there is a scar at back of knee measuring 4x4 cm. while
walking , she had spastic hemiplegic gait at left side. On local exam,
she had hypertonia and hyperreflexia and decreased power on LT
side in comparison to RT side . She showed +ve Babinski in LT side.
So the above mentioned findings suggested that pt had UMNL
affecting her left upper and lower limb, so the case is left
hemiplegia , I would like to confirm by taking history is this since
birth or new insult
What is diff between crossed and uncrossed hemiplegia ??
 Crossed : Hemiplegia in one side and LMNL facial on other side,
cused by lesion in pons
 Uncrossed : Hemiplegia and UMNL facial on same side, cuased
by lesion in internal capsule

Uncrossed

Crossed
84
 B)Double hemiplegia
 Flexion attitude of both UL with fisting of both hands and fog
sign bilaterally
 UL > LL
 Circumduction gait at both sides
 Both LL affected in power, tone and reflexes , but not with
same degree>> ‫النهم االتنين محصلوش في نفس الوقت‬
 +Ve Babinski at both sides
 Common cause is stroke

C)Diplegia
 LL> UL
 Diplegic gait
 Symmetrical affection at both LL
 + Ve Babinski at both sides
 Common cause is PVL

D)Quadriplegia

 Mostly bed ridden but may come walking

 Symmetrical affection of 4 limbs
 Macrocephaly +- VP shunt
 Decreased mentality as most cases due to neurometabolic
disorders

85
 Causes of UMNL
1) Prental:
 Infection
 IUGR
 Multiple pregnancy
2)Natal :
 HIE
 PVL ( PT )
 IVH
 HDN ( FT )
 Kerinecterus
3)Postnatal :
 Meningitis
 Head injury
 Sotroke
 Abscess
 NAI
4)Hypercoagulabity:
 SCD
 Postsplenectomy
5)Hyperviscosity:
 DKA
 Cyanotic CHD
6)Others: Tumors – Vascular – Hemiplegic migraine – Myoa
Myoa disease

86
 Bulbar palsy :
 Cuased by brainstem stroke, MS, Autoimmune, MG
 Bil destruction of CN nuclei ( 9, 10,11,12) –
 Drolling – Nasal regurgitation
 wasted tongue with fasciculation
 Lost gag reflex – Normal jaw reflex
 Psudobulbar :
 Caused by Stroke, Supranuclear palsy and NDD
 Bil damage of corticobulbar tract of nuclei of CN ( 5,7,9,10,11,12 )
 Drolling, Dysarthric speech and nasal regurge
 Brisk Jaw reflex
 CP>>> Group of persistent non progressive disorder of posture and movement
upto 4 years
 Spastic :
 Hemiplegic : weakness more distal – No Bulbar
 Diplegic ( PVL ): Both Sides, but LL > UL – No bulbar
 Quadriplegic ( HIE ): 4 limbs equal – Bulbar
 Dyskinetic :
 BG affection
 Central hypotonia
 Spastic limbs
 Dystonic : Trunk posture
 Athetoid : Involuntary movemrnt
 Ataxic : >> Cp + cerebellar ataxia
 Mixed : >> Mainly genetic or kerincterus
>> Choeroathetosis + ataxia
 Atonic :
 Muscle wasting
 Decreased power
 Hypotonia
 Hyperreflexia, + ve B and +- clonus

87
 Management of CP
 CP is a clinical diagnosis
 Screen for hearing and vision
 Speech evaluation
 Investigations not done routinely unless, no obvious cause,
developmental regression, +ve FH of CP
 Lab:
 Lactate, pyruvate
 CPK
 Urine for AA and OA
 24 hours PH study
 Chromosomal anylasis
 Metabolic screen
 For complications: CBC, CRP, RFT, LFT , UA
 Imaging :
 MRI : search for cause
 CXR and endoscoy : for complication

88
 Problem list associated with CP
 FTT : Nutritional support + Dietitian
 Fits : usaually uncontrolled ( EEG and neuro consultation )
 Hydrocephalus +- shunt
 Intellectual impairement +-
 Blindness ( Opthalmologist ) - Deafness
 Excessive salivation: after consultation >> Hyoscine patch
 GERD : PPI >> Fundoplication or jujenostomy
 Repeated chest infection
 Constipation : high fibre diet >> laxatives
 UTI : Plenty of water, frequent change of diaber , prophylaxis Abs and
CIC
 Multiple contractures and scoliosis: physio>> muscle relaxant >>
botulinium toxin >> tendon release ( Orthopedic )
 Physiotherapy important for :
 Balance and mobility
 Posture maintanace
 Prevent joint contracture and spinal deformity
 Occupational therapy :
 Fine motor improvement
 High hand coordination
 Adaption to environment
 If examiner ask you what other investigations and other systems exam
you would like to do in case UMNL :
 ECHO : Cyanotic CHD ( Cardio exam )
 Coagulation profile
 24 H urinary homocysteine ( Joint exam )
 Serum albumin ( LL edema , ascites in NS )
 HB electrophoresis ( Abd exam , SCD )
89
 2)Myopathy
 Proximal : DMD, Becker, Hyperthyroidism and steroids
 Distal : Mytonic, HSMN, GBS and TM
 May come walking or bed ridden
 Waddling gait + Gower sign
 Hyperlordosis
 LMNL
 Power affected proximal> distal (except in Myotonic dystrophy
 Preseved knee and brachioradialis reflexes
 Intact distal reflexes
 Intact sensation
 Causes : DMD, Becker dystrophy, MG, Myotonic dystrophy,
Dermatomyositis, Cushing, Achondroplasis, Rickets

A)DMD
 Myopathy: proimal > distal , later equal
 Muscle scar: at thigh +-
 Muscle hypertrophy: calf muscles and wasting in proximal
 Cognitive abnormality : 20 - 30 %
 I would like to complete my exam by: UL, CN, Cardiac exam PFT :
decreased VC and Take full history especially developmental and FH
 Diagnostic : Genetic test , dystrophin gene on x chromosome
 Lab : CPK , PFT, ECG ( rate and rhythm )
 Echo : Dilated cardiomyopathy
 X ray spine : lumbar lordosis
 Team : Pulmonologist , Cardiologist, Genetics , orthopedics, Liase to
school and Support to the family
 FH + mother carry gene >> 50% of will be affected and 50% will be
carrier in each pregnancy
 If no FH>> genetic testing for mother , if negative >>as normal
population, 1 to 3 %
90
 Becker dystrophy as DMD but presented later at older age and better
prognosis
 Facioscapulohumeral : Mask face + winging of scapula
 Limb girdle MD : as DMD but more affection of hip and shoulder Ms
 5 y : Walk unaided
 5 – 10 y : Walk aided
 > 12 Y : Wheelchair
 Cause of death : in 2nd or 3rd decade respiratory failure -
cardiomypothy
 Steroids : Slow detotoriation in muscle power, but improve the
respiratory functions
 New ttt : Atalurene , if child > 5 Y and walking- Used in nonsense
mutation
B)Mytonic dystrophy
 Fuilure of relaxation of contracted muscle
 If possible shake hand of patient, fauilure of release
 Facies : Frontal bolding, ptosis, Invetred V shaped lips, mask face
 Notice facies of parents , if they are in room exam
 Gynecomastia
 Talipus, High steppage gait ( Distal myopathy )
 Myopathy Distal > proximal ( then equal )
 Myotonic tongue
 I would like to complete my exam by:
 Cardio exam : cardiomyopathy
 Eye : cataract
 Developmental assesement
 Search for type 2 DM and thyroid abnormalities
 Examine mother : shake his hand
 Ask about : perinatal , oligohydramnios and decreased fetal
movements – Neonatal : DDH
 Genetics : AD with anticipation
 Diagnostic : EMG – Genetic
91
 C)Dermatomyositis
 Myopathy : proximal than distal
 5 types of rash : Viloaceous , Gottron papules, Nail talenegectasia, SC
nodules, calcinosis ( only one not respond to steroids )
 Steroid toxicity signs
 I would like to complete my exam by : MSK and CVS
 Diagnostic : MRI muscle
 Lab : RBS ( Steroid toxicity ) – CPK
 Endoscopy : Upper GI to see talengactasia of GI blood vessels

D)Mysthenia Gravis
 Myopathy: Proximal than distal, especially at end of day
 Dropping of eye lid
 Speech and swallowing affection +-
 Association:
 Head : thyroid
 Neck : pallor if pernicious anemia
 Skin : vitiligo
 Chest : SOB +-
 Ask about mysthenic crisis: Acute resp failure, treated by ventilation,
IVIG and plasmapheresis
 Ask about cholenrgic crisis : Loose motions, lacrimation and salivation
treated by supportive ttt
 I would like to complete my exam by : Eye – Head – Chest – MSK – CXR
for thymus
 Investigations :
 Acetylcholine reptor Abs
 Anti MSK Abs
 Edraphonium test : > 2 Y , at hospital , by IV infusion,
improve by 10 sec, atropine is antidote must be prepared
before the test
 Neostigmine : < 2 Y , peak after 20 min
92
  Screen for other autoimmune : TFT
 CT for thymoma
 TTT :
 Neostigmine or pyridostigmine
 Immunosupressant
 Thymectomy : ( IF AB +ve – pressure affection –
generalized affection – acute present ) >> benefits :
reduce the dose of steroid, need for
immunosuppressants and crisises
 Advice :
 Bracelet
 Emergency plan card
 Avoid triggers : Stress – Exhaustion – Tiredness
 Avoid some med : BB – Azithromycin – Ciprofloxacin –
Gentamycin – Nalidixic acid – Penicillamine –
Neuropsychatric drugs
 Give extravaccines : PCV – Flu
 If got pregnant : Senior neonatologist should attend the
labour
 DD :
 Chronic fatigue syndrome
 Myotonic dystrophy
 GBS
 Botulinium toxins
 Causes of resp failure :
 Mysthenic crisis
 Cholenergic crisis
 Resp infections

93
 3)charcot marie tooth
 Distal wasting = Distal myopathy = Inverted champaign
bottle
 Pes cavus + claw hand
 Scoliosis
 High steppage gait = Foot drop
 Ask him to sit from standing position
 Hypotonia and hyporeflexia at ankle, Normal at knee
 Sensation : Deep affected more than superficial
 Intitial investigations : NCV- EMG
 Diagnostic: Sural nerve biopsy ( Onion bulb formation )
 For complications : PFT due to scoliosis
 Types : 1 , most common ( AD ) – 2, axonal ( AD or AR T –
3, hypertrophic ( AD or XLR )
 TTT: Stabilize ankle joint with ankle foot orthosis
For burning sensation : phenytoin or carbamazepine
Physiotherapy
 DD : Friedrich ataxia ( ataxia + ve R test and B )
 Unil high steppage gait : Peroneal N injury, Trauma,
Fracture, Spinal cord tumor
 Bil high steppage gait : GBS, TM, Poliomylitis , Vincristine ,
Alchol

94
 Upper limb examination
o WIPE WIDS
o Exposure till shoulder
o General observation as LL : Vitals, 2M, 3D, 6S
o Inspection :
 Skin:
 Scar of tendon release
 Scar on back of neck in monoplegia>>>>>> ‫جات في سنتر مصر‬
 Scar of brachial plexus injury repair at axilla
 Muscle: Wasting
 Bone: Deformity
o Tone :
 Asses group of muscle and compare both sides at:
 Shoulder : Flexion and circumduction
 Elbow : Flexion and extension
 Wrist : Flexion and extension or shaking
o Power :
 Compare both sides , asses grade and determine proximal or distal
 Shoulder : Ask pt to raise arms above head ‫وضع البطة‬
 If he can do >> so power > 3 , do F, E, Abd, Add against
resistance
 If he cannot >> so power < 3, do Abd and Add with gravity
elimination ( pt lying down and Pillow below shoulder )
 Elbow : Ask pt to flex and extense against gravity ‫وضع البوكسنج‬
 If he can do >> so power > 3 , do same movements against
resistance
 If he cannot do >> so power < 3 , do same movements with
gravity elimination
 Wrist : As elbow
 Fingers: Ask the pt to hold my fingers , and donot let it out

95
o Reflexes :
 Biceps : indirect ( C5,6 )
 Brachioradialis : Indirect ( C5, 6 )
 Triceps : Direct ( C7 )
o Coordination :
 Finger to finger
 Finger to nose
 Dysdydokinesia
o Sensation :
 Done if LMNL ( Donot miss also tongue fasciculation )
 Deep sensation : as LL , done using Thumb
 Superficial sensation: Same as LL

‫ لو حاسس هتطلع لفوق‬,,,,‫هتختار نقطة مميزة لكل ديرماتوم وبعد كدة هتختار نقطة البداية لو حاسس هتنزل تحت‬

 T2 : Axilla
C4
C3
 TI : Elbow medially
C5
 C8 : Tip of little finger
C6
 C7 : Tips of middle fingers
C7
 C6 : Tip of thumb>>>> Start
C8
 C5 : Arm medially
TI
 C4 : Tip of shoulder
 C3 : Root of neck T2

96
 If task is UL, I will complete my exam by examination of LL and
CN >> If case is UMNL, I will do Babinski in LL- if myopathy, I will
do power in LL -if ataxia , I will do coordination and reflexes

2)UL cases
 UMNL: Monoplegia - Hemiplegia
 LMNL : Brachial plexus injury – SMA - Advanced cases of
myopathy
Erbs palsy
 C5 – C6
 May associated with phrenic nerve injury
 Risk factors : Large baby, Difficult delivery, Forceps delivery and
Shoulder dystocia
 Waiter tip position
 Intact grasp reflex
 In older age, on affected side, you will find :
 Scar : may be present under axilla of brachial plexus repair
 Muscle bulk: Wasting in Deltoid and Biceps
 Tone : Decreased in whole limb
 Power : Decreased on all levels
 Reflexes : Hyporeflexia of Biceps and brachioradialis
 Sensation : Lost at outer aspect of arm, forearm and index and
thumb
 Physiotherpay : Start 10 days after diagnosis - MRI done if failed
physiotherapy to determine site of nerve avulsion before surgery
Klumpks paralysis
 C8, T1
 Claw hand
 Severly wasted muscles of the hand
 +- Horner and phrenic at same side
 Sensory affection of C8 and T1
97
 Cranial nerve examination
A) 2, 3, 4, 6 = Core eye examination
A P A + Field + Movement
 Visual acuity :
 If he wearing glasses , you will examine twice , one
when wearing glasses and another without
 Each eye alone
 Far vision: First distal movement >> Finger counting
>> Hand movement >> Light perception
 Near vision : using book or magazine, ask him to read
words or identify pictures
 Pupillary reflex :
 I ask the pt to put his hand perpendicular to middle of
face to separate eye from each other
 Direct : Constriction of same eye exposed to light
 Indirect : Constriction of other eye
 Accomodation reflex:
 By my finger 30 cm in middle of front of pt , I will ask
the pt to look directly on my finger when get closer
and closer
 Normally , pupil constriction and convergence of both
eyes

98
 Visual field : Confrontation method ‫الزم تشوف فيديو‬
 ‫انا والعيان هنغطي عنينا المواجهه لبعض‬
 ‫بص علي مناخيري ومتحركش راسك واول ماتشوف صباعي قول‬
 I will sit in front of the pt and I will cover my RT eye
and he will cover his LT eye and ask him to look direct
to me and note when he saw my finger. Then we shift
our hands to examine other eye
 Move out of field then inside
 Asses both temporal and nasal fields for each eye
separately
 Examine at 4 parallel lines at 2, 4, 8, 10 clock
 Visual movement :
 Note bilateraly if any ptosis
 Ask the pt not to move his head , just follw with his
eyes my moving finger
 If pt not cooperative, fix his head by your hand
 My finger movement in H shaped manner + return to
point of start

99
 Eye examination
Inspection :
 Front : ptosis – nystagmus - squint - coloboma - cataract
glaucoma - conjunctival injection or jaundice - corneal clouding -
intraocular lens - anophthalmia – heterochromia
 Side : lid lag – lid reraction – loss of hair
 Behind : Proptosis
 CN exam
 Association :
 Miosis :
o Syndromic: noonan – RTS – SLOS – marcus gun
o Neurological: MG – MD – NF – NB - Horner – 3trd CN palsy
o Others : idiopathic – tumors
 Ptosis :
o Syndromic: noonan – RTS – SLOS
o Neuro : MG – MD
o Horner : miosis, ptosis , anhydrosis
o 3rd CN palsy : Mydriasis, ptosis and eye down and out
o Unilateral : trauma – infection – 3rd CN palsy
o Pseudptosis : microopthalmia – enophthalmia
 Proptosis:
o Examine thyroid
 Nystagmus:
o Growth
o Vertical or horizontal
o Visual acuity
o Talenegctasia in AT
o Speech
o Gait and Romberg
o Coordination
o Complete neuro exam

100
 Squint cases
 I should determine is it paralytic or visual error ?? ( by visual acuity )
 I should determine is it True or False ( hypertolerism )
By corneal light reflex >> Ideally in dark room, when I point light to both
eye at a distance of 25 to 30 cm , I will see the light reflexion at cornea
at same site
 4TH CN affection ( Trochlear ) >> ‫بصة المتكبر‬
 Head tilting to healthy side
 Upward inward deviation of affected eye
 6TH CN affection :
 Ask pt to look laterally bilaterally
 In affected eye , it will fix in the middle
 3rd CN affection : >>> ‫بصة الغشاش‬
 Ptosis
 Mydriasis
 Downward outward

B)CN 5 ( Trigeminal )
 Motor part :
 Ask the pt to clench on his teeth and I will palpate the masseter
muscle
 Ask the pt to open his mouth against resistance
 Sensory part :
 By piece of cotton , I will test for sensation when he closing his eyes
over forehead ( ophthalmic ), maxilla ( maxillary ) and mandible (
mandibular )

101
 C)CN 7 ( Facial )
 Raise ur eye brows
 Blink+ firm close ur eyes and donot let me open
 Blow, whistle and smile
 Examine skin for lyme disease and ext ear for RHS
B) CN 8 ( Vetibulochoclear )
 Hearing part : you will detect from speaking with the child
by common Qs as what is ur name ?
 Balance part : by Romberg test
C) CN 9 ( Glossopharymgeal )
 Look at uvula , will be deviated to normal side
D) CN 10 ( Vagus )
 Check if any hoarseness of voice
E) CN 11 ( Accessory )
 Raise your shoulders
 Examine both sternomatoid by pushing his face against
my hand
F) CN 12 ( Hypoglossal )
 Stick out your tongue
 Deviated to diseased side

102
 Ataxia
 Task :
 Examine pt complain of abnormal gait
 Exam LL
 Asses coordination ( if this , you will do complete approach
of LL )
 Finding :
 Abnormal speech ( staccato – slurred )
 Nystagmus
 Talangectasia in eye, ear lobule and inner side of lip : AT
 Abnormal gait , failed tandem gait
 Romberg test : +ve >> in FA ( Deep sensation must be done )
cannot be done>> in AT, mixed CP and cerebellar ataxia
 Muscle wasting + Pes cavus : FA
 Special shoes : in FA – Mixed CP
 Scoliosis : FA, AT, mixed CP
 Tone and reflexes :
 +++ : Mixed CP + ve Babinski ( upward )
 ------: FA with + ve Babinski ( upward )
 N N : AT – cerebellar ataxia >> downward Babinski
 Causes:
o Acute : post viral – Alchol – GBS – ADEM – Drug
o Chronic :
 with normal mentality >> Miller fisher – A
betaliproteinemia
 Affected mentality >> Mixed CP - Refsum

103
 Cerbellar ataxia
 Stacatto speech
 Nystagmus : laterally ++ toward lesion
 Ataxic gait>> failed tandem gait >> Romberg
 Power, tone and reflexes : N or decreased
 Babinski : Downward
 Coordination : affected in UL and LL
 I would like to complete my exam by :
 History of recent infection : VZ, measles
 History of recent vaccine
 History of behavioural changes : ADEM
 Investigations :
 Inflammatory markers
 MRI
 Fundus

104
 Ataxia Talengactasia
 Cerbellar ataxia
 Small for age
 Excessive drolling
 Talengactasia : eye – inner side of lips – ear lobule
 Skin : vitiligo – café au lait spots
 Scoliosis
 Association :
 Chest : repeated infections : cause of ID, scoliosis and
++ salivation
 Devlomental delay
 Late menarche and early menopause
 Investigations :
 Diagnostic : genetic, AR on ch 11 ( chromosomal
breakage )
 Lab : Total IgA, IgG , decreased – alpha FP – CBC (
exclude leukemia ) - RBS ( exclude DM )
 Fundus : if brain tumors suspected
 Imaging : MRI , to detect cerebellar atrophy and
screen for brain tumors – X ray spine for scolioisis
 Advice :
 Avoid overcrowdindg and infections
 Extravaccines
 Avoid radiation
 Screen for tumors

105
 Friedrich ataxia
 Cerbellar ataxia
 Power, tone and reflexes : decreased
 Babinski : Positive
 Deep sensation : affected
 I would like to do :
 MSK : pes cavus – Scoliosis ( Sprine xray –
Spirometry )
 CVS : HOCM( cause of death ), arrhythmia (
pulse, ascultate )
 RBS : DM
 Fundoscopy : optic atrophy
 NCV
 Genetic counselling
 Developmental assesement
 Diagnosis :
 MRI : cord atrophy
 NCV : affected sensory and intact motor
 Genetic : AR on ch 9
 Echo : HOCM
 Advice : cardiac advice
 TTT : Interferon gamma - Nictonamide

106
 Pure dystonic CP
 Ataxia
 Trunkal hypotonia
 Periheral hypertonia
 Decreased power
 Hyporeflexia
 Negative Babinski
Mixed spastic CP
 Ataxia
 Trunkal hypotonia
 Peripheral hypertonia
 Decreased power
 Hyperrflexia
 Positive Babinski
 BG signs:
 Milk maid grip : uncontrollable rhythmic
squeezing of examiner fingers when try to grip
and hold fingers
 Jack on the box : Ask him to stick tongue out
 Hand sponing : Ask him to hold hand infront of
him, it appears as flexion of wrist and extensions
of fingers
 Pronator drip sign : hold hand infront and close
eye, pronation will occur
107
 BG affection
 May bed ridden
 NGT and microcephaly : in huntigton
 Chorea : face, mouth, trunk and limbs
 Dystonia : trunk maily
 Athetosis : hand and feet
 Tone :
 Hypo : rheumatic
 Hyper : mixed CP – Huntigton
 BG signs
 Causes:
 Acute : trauma – tumors – med
 Chronic : CP – RHD – SLE – Wilson – Hyperthyrodism - Lysh nyhan
sdynrome – moya myoa disease
 Complete exam by :
 Full neurological exam
 Cardiac : RHD – SLE
 Skin rash : RHD - SLE
 Thyroid
 MSK
 Abd : Hepatomegaly in Wilson
 Eye : kyser flisher and jaundice ( Wilson )
 Developmental assessment
 Eye :
o Kyser flisher – jaundice : Wilson
o Pallor : anemia of chronic disease
o Squiunt, nystagmus : CP
o Exophthalmus in hyperthyroidism
 Take history
o Recent infections
o Behavioural changes
o Is movement decreased by sleep or rest
108
 Bed ridden
 UMNL :
 Quadriplegia
 Neglected hemiplegia
 Neglected Diplegia
 LMNL :
 SMA
 Spina bifida
 Advanced cases of myopathy ( as DMD and MD )

Approach
>> WIPE WINDS + G.observation >> Local exam (No general exam)
 Special position ( scissoring – windswept )
 Face : any CN affection – Ask to protrude tongue only if LMNL
 Head : Inspect Size ( measure if ++) and Shape - Palpate Shunt
and Sutures ( AF, PF ) – Salivation ( +- hyoscine patch)
 Neck : Tracheostomy
 Back : 4S >>> Still in nappies – Scar – Scoliosis - Sores
 Skin : Trophic ulcers if sensation affected
 Muscle : Wasting
 Bone : Contractures – Deformity
 Power : affected in all cases
 Tone and reflexes and Babinski :
 Hypertonia, hyperreflexia and +ve B : UMNL
 Hypotonia , hyporreflexia and downward B : LMNL
 Sensation :
 Intact : UMNL and myopathies
 Affected : Spina bifida + Must got sensory level
 Motor level :
 Only in spina bifida
 Obligatory : No abnormal movement – No scar
109
 Quadriplegic bed ridden
 Wheelchair
 Macrocephaly +- VP shunt, may be micro also
 Mentality : abnormal
 Movement : abnormal +-
 Speech : affected
 Startle on hearing: Must permission
 See or not : by following me or not
 Salivation, Snoring
 Seventh nerve and squint : +- and may rooving eye
 Scissoring or windswept positinon
 Still in nabbies
 Observation :
 Skin: Scars - Sores
 Muscle: Wasting
 Bone: Contacture – Deformity
 Examination :
 Sores
 Scoliosis
 Bil symmetrical in 4 limbs : Decreased power –
Increased tone and reflexes - + ve Babinski
 Intact sensation

110
 SMA
 May come walking ( in type 3 )
 Wheel chair
 Normal speech and mentality
 Alert look
 Hypotonic position
 Not moving UL
 Bell shaped chest
 Still in nabbies
 Skin sores
 Hypotonia , hyporreflexia and downward Babinski at LL
 Intact sensation
 Tongue fasciculation
 Types :
 1)WHD: severest < 6m – cannot sit
 2)Moderate by 12m, can sit
 3)KBD : can walk , present at 5 – 15 years
 Investigations :
 Genetic : diagnostic
 EMG : denervation pattern
 Muscle biopsy : atrophy of muscle fibres
 Complications :
 Poor wt gain and feedin difficulties >> Dietatian
 Resp infections and apnea : PFT and pulmonologist
 Scoliosis and Joint contactures : Ortho and physio
 Team:
 Neurologist ( team leader )
 Genetic
 Team of complications

111
 Spina bifida ‫أهم واحدة فيهم‬
 Hypotonic position
 Dimensions :
 Wasting of lower part of body
 Obesity of upper part of body
 Head :
 Size of head : +- increased
 Shunt : +-
 Back :
 Scoliosis
 Still in nabbies
 Sores if bed ridden
 Scar on back : transverse ugly
 LL exam :
 Square scar : on thigh ( Skin graft to cover the defect )
 Talipus
 Trophic ulcers on both LL
 Muscle fasiculations on LL muscles
 Motor level :
 > L1 : Lying , cannot seet
 < L2 : Can seet
 < L3 : Crawl ( flex , ext of knee) and walk with orthosis
 < S3 : Walk
 Sensory level : is a must
 Complete my exam by:
 Abdomen : search for
 Fecal mass: constipation
 Urine retention
 Shunt : VP shunt
 Private area : search for
 Urine cath in urethera or suprapubic and color of urine in
urine bag - Patulous anus - Scar on groin of DDH repair
112
 Types :
 Oculta : bone defect without protrusion of meninges or csf
 Meningocele : meninges + CSF
 Meningomyelocele : Muscles + Meninges + Nerves + CSF

 Problem list :
 Skin: bed sores – trohic ulcers ( frequent change of
position )
 Bone : Joint contactures – Scoliosis – Cong hip dislocation
( orthopedics, physio and occupational)
 Urine : Infection – Incontinence ( CIC + Oxybutonin )
 Stool : Constipation – Incontinence( Fluids, laxatives )
 Hydrocephalus ( ACH 2 ) >> Shunt ( Neurosurgeon )
 Seizures ( Neurologist is the team leader )
 Latex allergy
 Learning difficulties ( Educational )
 Causes of abd pain in spina bifida :
 Shunt nephritis
 UTI
 Constipation
 Peritonitis

Advanced case of DMD

 Usually > 10 years
 Hypertrophied calf muscles
 Scar on thigh muscles
 Decreased power, tone and reflexes : proximal > distal
 Intact sensation
 Your right to ask the patient to protrude his tongue as the case is
LMNL and no scar on back

113
MSK ( A B )

114
 MSK approach
 Opening statements : directed to body part or function
 He has difficulty in writing
 He has difficulty in walking
 He has pain in UL
 He has pain in LL
 Intitial 6 steps : WIPE WINDS
 Write data from cue >> put DD
 Enter the room, wash my hand, introduce my self, take a permission
and make a rappot with the child, during rappot what about speech
and mentality ?
 Vitals
 Measures : WT, HC, Sitting HT and Standing HT
 Dysmorphic features
 What did he bring to exam ??
 Screeing questations : I will take a permission from examiner to ask
parents or pt some Qs
 Do you have any pain in ur body or ur joints ?
 Do you have any difficulty in climbing up or down the stairs?
 Can you feed ur self ?
 Can you put ur clothes on and off by ur self ?
 Exposure :
 LL : ask him to lift trousers to midthigh and take off his shoes and
socks
 UL : ask him to role up his shirt to shoulders
 Standing :
 Skin : scars - sites of injections – rash
 Bone : deformity
 Muscle : atrophy or hypertrophy
 LLD : look at patella
 Special shoes
 Beighton score : look at hyperextended knee
115
 Gait : >>>> if he can walk
 Antalgic gait : arthritis
 Circumduction : hemiplegia ( cause of haemophilia )
 Waddling gait : Myopathy
 Back :
 Scars
 Scoliosis or lordosis
 Scapula
 Bending forward ( test for hypermobility )
 LD and measures : ‫اول مايطلع علي السرير‬
 From ASIS to medial malleolus at one shot if no deformity
 From ASIS to tibial tuberosity then to medial malleolus if
there is deformity
 In UL , just put beside together with no need for measures
 Local exam, Based on answers of screening Qs :
 Arthritis : Detailed joint exam
 No arthritis : ITP
 Other limb :
 If task UL >> U will do LL
 If task LL >> U will do UL
 Targeted general exam ( Association ) : according to each case

116
 Beighton score
More than 4\9 = hypermobility
 Thumb test (2): opposition of thumb to flexor aspect of forearm
 Little fingers(2) : hyperextension > 90 degree
 Knees(2) : passive hyperextension > 10 degree
 Elbows(2) : as kness, from horizontal axis
 Back (1) : bend over , touch the ground with palms and knees
extended

117
 Local exam in case of arthritis
 Arthritis means swelling + 2 of following :
 Redness
 Hotness
 Limitation
 Tenderness
 Compare >> both sides , start by healthy side
 Look >> scar, redness, wasting, deformity and nails
 Feel 3 T :
 Temperature : by dorsum of the hand at joint , above and
below
 Tendernes : by squeezing with index and thumb while
looking at face of the child
 Test for effusion : tape by index finger ( knee patellar tab )
 Move :
o I will start by asking him to do active movements , if he
cannot I will take a permission from examiner to do
passive, if he cannot I will ask about function or not (
screening Qs )
o Active means , I will show him some movements and ask
him to imitate me
o Passive , I will help him to do the movements but my
eyes on his face
o You will ask can he do these moves >>if there , you will
ask two Qs ?
 Because of pain or limitation ?
 Can I do it passively ?

118
 Hip : ‫ حركات‬6
 Flexion: Touch abd with thigh
 Extension: at end of exam , lie prone and do ext
 Abduction
 Adduction
 IR: knees touch each other with ankles outside
 ER : put ankle on knee ‫حط رجل علي رجل‬

NB1: Tenderness , felt on greater trochanter

NB2: Spine is the joint above and Knee is joint below
NB3: Gluteus wasting to be noted

119
Knee : ‫ حركتين‬flexion and extension

NB1: Genu varum and Genu valgus are deformities to be seen

NB2: Tendernss felt around the patella

 Ankle : ‫ حركات‬4>>Planter flexion – Dorsiflexion – Eversion -

Inversion

o Look at symmetry, nail changes, skin rash , extra toes or scar

of removal , swelling , callus , special shoes and look at
tendoachilis
o Feel temp at foot and ankle, peripheral pulse and tenderness
by gentle squeezing on MTP joints
o Exam only knee above

120
 Shoulder : ‫ حركات‬7
 Flexion( raise arms up while hand infront of you )
 Extension( put arms down)
 Abduction( while hands beside raise it up )
 Adduction( while hands beside put it down )
 IR ( put arms behind ur back )
 ER Circumduction( put arms behind ur head )
 Circumduction( circular )

121
 Elbow : ‫ حركات‬4, flexion – extension – supination – pronation

o Look at carrying angle , flexion deformity, scars, swellings, rash,

psoriatic plaques and rheumatoid noduless
o Feel tendernss on olacronian proces
o Effusion test : hold forearm with one hand, elbow flexed at 90
degree and palpate for head of radius and joint line with my thumb
for fullness and fluctuant
 Wrist : ‫ حركات‬6 , flexion – extension – supination –
pronation – ulnar deviation – radial deviation

o Look for nails, any hand deformity, palmer erythema , scar of carpel tunnel
and thenar and hypothenar muscle atrophies
o Feel pulse, temp , tenderness and test for effusion in fingers and wrist

122
 Measure :
 LL : if no deformity , we will measure from ASIS to medial
malleolus , if deformity present , we will measure in two
steps from ASIS to medial tuberosity then to medial
malleolus
 UL : Check symmetry only , by extending both arms beside
each others , no meaures

NB : If scoliosis present with LLD , ask patient to sit, if scoliosis

corrected , so it is cause of LLD

 Joint above and joint below : (look, feel, move ), in case of hip
must take permission

 Association

123
 Exam in case of no arthritis
ITP
 Inspection : nails – skin – muscle – deformity –
discrepancy
 Touch : I will touch with my hand to see any deformity
 PGALS : ( Paediatric Gait, Arm , Leg and Spine ), is a
screening to detect any joint abnormality, if found we will
proceed to detailed joint exam, we do PGALS in the
following conditions :
 When asked to do general MSK exam
 Asked to examine legs and arms
 Asked to examine leucomotor system
 Finishing detailed joint exam and want to check other
joints
 PT came with limping, joint pain or stiffness
 PT came with clumsiness , difficulty to dress or
climbing stairs
 Association
 Measures and maneuvers
 Other PGALS ( if task LL >> UL and vice versa )
 Thank and cover
 I would like to complete my exam ..

124
 LL PGALS : ‫ حركات‬9
 Hip : flexion – IR – ER
 Knee : flexion, extension, test for effusion(patellar tab).
 Ankles : same as knee + marfan sign( double malleolus)

Patellar tab: squeeze lower part of thigh and fluid will

be tapped on upper part of patella

Marfan sisgn ( double malleolus sign in rickets)

125
 UL PGALS : ‫ حركة‬13
1) Put ur hand infront of you : ‫ ادعي‬, flexion of shoulder and
extension of elbow and wrist
2) Make a fist : ‫ امسك الدعوة‬, flexion of small joints of hand and
supination of elbow and wrist
3) pinch tips of fingers : ‫ سبح‬, coordination of small joints with
thumb
4) Palm to palm : ( ‫>) صلي‬flexion of elbow and extension of wrist
and fingers and
5) Dorsum to dorsum: (4 ‫ >)عكس‬extension of small joints of fingers
and flexion of elbow and wrist
6) Make a star : ‫خمسة وخميسة‬, fanning of fingers >> extension and
abduction of fingers
7) Make a circle : ‫عالمة مضبوط‬
8) Squeezing of fingers : ‫انا اللي بعملها وببص علي وشه‬, test for MCP joint
tenderness
9) Thumb test
10) Little finger test ( 9,10 >> hypermobility )
11) Put ur hands above ur head and look at it : ‫ ارفع دعوتك للسماء‬, neck
extension, shoulder abduction and extension of elbow and wrist
12) put ur hand behind ur neck : ‫ ايدك وراء رقبتك‬, shoulder
abducted, externally rotated and elbow flexion
13) Put ur hands behind ur back : ‫ ايدك وراء ضهرك‬, adduction and
IR of shoulders

126
127
Back PGALS: ‫ حركات‬6
 Flexion : bend forward ‫المس االرض‬
 Extension : bend backward ‫افرد ضهرك لالخر‬
 RT and LT bending : ‫ميل يمين وشمال‬
 RT and LT rotation : ‫لف بجسمك يمين وشمال‬

Neck PGALS : ‫ حركات‬7

 Flexion : put ur chin on chest ‫المس صدرك بدقنك‬
 Extension : look up at ceiling ‫بص للسقف‬
 Bend to RT and LT : ‫ميل يمين وشمال‬
 Rotate to RT and LT : ‫لف راسك يمين وشمال‬
 TMJ ROM : open ur mouth an put 3 fingers, < 3 is limited and
> 3 is hypermobile ‫ صوابع في بقك‬3 ‫حط‬

128
 Cases of MSK
 Joint :
 Haemophilia
 Psoriasis
 Traumatic
 RF
 Septic
 Bone :
 Rickets
 OI
 Achondroplasia
 EVS
 MPS
 Blont disease
 Muscle :
 DMD
 Dermatomyositis
 Athyrogryposis
 Skin: Psoriasis - SLE
 Hypermobility: Marfan, EDS , Rickets, OI , Achondroplasia
 Fragile X syndrome
 Other DDs : hand nerve injuries

Myopathy in MSK
 Waddling gait : I know this MSK station but the child walk in
waddling gait , can I confirm my finding by Gower sign ?
 Inspection : no arthritis
 PGALS : limitation in hip and shoulder in active movements,
but passive done normally

129
 Arthrogryposis
o Congenital joint contractures in two or more areas in body
o Caused by fetal akinesia primarily due to oligohydramnios or secondary
to other causes as muscle diseases
o Fixed flexion deformity
o Multiple contractures
o Muscle wasting
o Hypermobility
o ITP : limited active and passive movements
o Association :
 Previous callus formation
 Renal
 Restrictive lung disease
o Comlete exam by:
 Exam mom for MG
 Back
 Abd
 Spirometry and geometry
 Developmental
o Types :
 Amyloplasia: severe joint contracture with muscle weakness
 Distal : mainly involve hand and feet
 Syndromic : with 1ry neurological syndromes
o Prognosis :if not syndromic can be treated by surgery
o Investigations :
 CK, EMG, muscle biopsy
 RFT
 X ray spine, geometry and spirometry for scoliosis
 Genetic study
o Ask about oilgohydraminos in antenatal history

130
 Causes of arthritis
 Arthritis with tredlenburg gait >>non painful – affected hip is lower:
 DDH
 Muscle dystrophy
 Perths disease ( may be painful also )
 Arthritis with antalgic gait >>painful – affected hip is higher :
 Infection
 Trauma
 JIA
 SUFE
 Acute arthritis :
 Septic
 Trauma
 Haemophilia
 Sickle
 HSP
 Lyme
 KD
 Chronic arthritis :
 JIA
 SLE
 Psoriasis
 IBD
 DDH
 Malignancy
 Dermatomyositis
 Infection : TB – IE

 Monoarthritis : Trauma - Septic - Reactive - Psoriasis - Sickle

Haemophilia - Oligoarticular JIA

 Polyarthritis : Poly JIA – Psoriasis - Reactive

131
 Haemophilia

 Antalagic or hemiplegic gait

 Monoarhritis
 Submental if ICH occurred
 Joint swelling
 Scar of evacuation or joint replacement
 Association:
 Skin: bruises
 Neurological insult
 I would like to complete my exam by :
 Plot on growth chart
 Skin
 Neurological
 Chest : for portacath ( port of factor 8 delivery )
 Abdomen : hepatomegaly if hepatitis occurred from repeated
blood transfusion

132
 Causes :
 Congenital : 8,9,11 def
 Acquired : no FH , autoimmune cause as autoimmune diseases
 Severity : Severe : < 1 % - Moderate : 1 – 5 % - Mild : > 5 %
 Types : A : 8 - B : 9 - C : 11
 Investigations :
 CBC for anemia
 CRP , ESR
 Coagulation profile : ++ PT and PTT
 Factor 8 assay if normal >> factor 9 assay
 X ray and U/S joint
 Gene test
 MRI brain if neurological complications
 HBV and HCV serology
 Management:
 Complete history taking
 Acute arthritis : Pain killer + RISE ( Rest, Ice pack 1st 48H after
trauma, Immobilization, Splint , Elevation of the limb)
 Mild haemophilia >> Tranexamic acid
 Moderate >> DDVAP
 Severe >> Recombinant factor 8
 Tranexamic acid :
o Antifibrinolytic
o Need renal adjustment
o CI in frank hematuria
 Vasopressin :
o In mild and mod haemophilia A
o In type 1 and type 2A VWD
o CI in cardiac conditions, epilepsy , renal impairement, DI and < 2 Y
o Precautions : measure BP every 5 min during the infusion – fluid
chart for the following 24 H after infusion

133
 Target:
o 80 – 100 % : in major surgery , serious accident and in head injury
o 30 % : in trauma to non wt bearing joint
o 50% : in trauma to bearing wt joint ( ankle, knee ) and predental
extraction
 Admission of child with bleeding disorder :
o Bleeding in resp passages and GIT
o Suspected internal hge
o Hge in dangerous areas : carpel tunnel – iliopsoas
o Surgical and dental ttt
o Haemoarthrosis in wt bearing joints
o Any lesion need > 12 hourly replacement therapy

 Types factor 8 :
o Human : can cause HBV, HCV and HIV
o Recombinant : cause tolerance ( known when factor 8 taken at
higher doses and shorter intervals ), treated by densensitizaion
and factor 7

 Advice :
o Avoid NSAIDs, trauma , contact sport and IM injection
o HBV and HAV vaccines given SC
o If diagnosed antenatally >> avoid instrumental delivery and should
be planned CS
o Genetic counselling
o Wear bracelet
 Team :
o Paed haematologist
o Rheumatologist
o + - neurologist
o Physiotherapy and occupational
o Liase to school and Support to the family

134
 Inflammatory joint disease
 Most common in exam are JIA, SLE , Psoriasis and IBD
 Skin rash in SLE ( malar rash ) and psoriasis
 Wearing glasses
 Uvetis ( JIA )
 Steroid toxicity signs ( moon face, acne, hirshutism, IS pad of fat
 Mouth ulcers ( IBD )
 Hair ( alopecia areata in JIA )
 Limbing gait
 Ulnar deviation in JIA
 Nail pitting, onchylosis and dactylitis ( psoriasis )
 LN and HSM in SOJIA
 If you donot have specific rash , you will present ur case by saying>> it
is chronic inflammatory joint disease mostly JIA , other DD are SLE and
IBD
 Investigations of chronic inflammatory joint disease :
 Acute condition: CBC, ESR, CRP + xray and u/s of the joint
 Chronic condition : immunological workup of SLE – HLA typing –
ANA – Upper and lower endoscopy in IBD
 Association and complication : Slit lamp – RFT
 Treatment :
 Pain killer
 Medical ttt : NSAID – Corticosteroids local and systemic – DMD (
azathioprine , cyclosporine ) – anti TNF except I lupus as it
aggravate the disease
 Nonmedical : physiotherapy – hydrotherapy - passive exercise –
occupational - splint

135
Steroid toxicity signs

Mouth ulcers in IBD

Uveitis

Psoriatic rash

Malar rash

Alopecia areata

136
 Discussin Qs in JIA
 Types ?? arthritis of one or more joint > 6w
o SOJIA :
 <5Y
 Temp > 38
 Salmon pink rash intermittent with the fever

 Polyarthritis
 LN + HSM
 Pericarditis + Pleurisy
 No uveitis
 DD : SLE – RF – KD – TB – Malignancy – Malaria
o Oligoarticular :
 Large joints < 4 joints
 Swelling without pain and tenderness without erythema
 Uveitis if ANA +ve
 LLD : affected limb is longer
 Prognosis : resolve , relapse or extended oligo
 Persistent oligo : 4 joints from the start
 Extended oligo : 2 joints then after 6 months involve >4
o Polyarticular :
 RF – ve : symmetrical arthritis – TMJ affected – uveitis rare –
ANA +ve in 25 %
 RF +ve : no uveitis – severe joint destruction – ANA +ve in 75%
o Enthesitis related : inflammation of tendon insertion – 90 % in boys
– uveitis – RF-ve – HLAB27 is +ve in 75% - many develop ankylosing
spondylotis
 Eye exam : In ANA + ve : every 6 months - In ANA – ve : every year
 Local steroid therapy : in oligoarticula

137
 Psoriatic arthritis
(Skin + Scalp + Eye + Joints + Nails )
 Diagnosed clinically by vancouver criteria >> arthritis with
typical psoriatic rash or arthritis with 3 of the following :
 Dactylitis
 Nail pitting
 Psoriatic like rash
 First or second degree relative
 First MTP joint and DIP joints most commonly affected
 Scalp : search for psoriatic rash
 ANA : positive in 50 % >> ++ risk of uveitis ( slit lamp is a must )
 Skin biopsy : after liasin with dermatologist
 TTT : as JIA + emoliont, keratolytic and topical TAR

Psoriasis rash on extensors

Dactylitis

Nail pitting

Onchylosis

Scalp psoriasis
138
SLE

139
 Immunological assessment in SLE

 Anti DSDNA: correlate with disease activity especially nephropathy

 Anti smooth Abs : specific for diagnosis
 Anti RNA Abs : associated with Raynaud phenomena and if high , it is
associated with mixed CT disease not SLE only
 Anti RO Abs : SLE + Jogren disease
 Anti LA Abs : in neonatal lupus
 Antiphospholipid: ++ risk of thrombosis
 Antihistone Abs : ++ in drug induced lupus

Investigations of SLE
 Serum BHCG : if pubertal female
 Acute arthritis: as mentioned above in chronic inflammatory joint
disease
 Chronic disease: immunological profile – RF – HLA typing
 Association and complication: Slit lamp – RFT – ECHO

MDT
 Rheumatologist
 Ophthalmologist
 Nephrologist
 OBG if pregnant female
 + other team of chronic inflammatory joint disease

Advice

 Avoid nephrotoxic drug if kidney affected

 Steroid advice if on steroids
 Sexual health clinic FU if in pubertal period

140
 Back approach
 WIPE WINDS
 General exam : screening Q – Standing
 Local exam :
 Look :
 Hair line, web neck or short neck
 Springle deformity
 Scars
 Scoliosis
 Café au lait patches
 Asymmetry , one hip higher than other
 Feel :
o Spine for tendernss and scoliosis
 Move :
o 13 PGALS movements( 6 back and 7 neck )
o While am supporting or fixing the waist
 Measures :
o Geometry for copp angle for scoliosis
o LLD if apparent discrepancy
 Joint above ( Shoulder ) and joint below ( Hip )
 Association >> according to the case
 Other PGALS : UL and LL
 Thanks and cover
 I would like to complete my exam by …
141
 Klipple feil syndrome
 Fusion of at least 2 vertebra in neck >> limited mobility
 WIPE WINDS : difficult speech and articulation +- special jacket
 General SSGB
 Local (Detailed back exam )
o Compare
o Look for
 Hair line
 Short webbed neck
 Springle deformity
 Kyphoscoliosis
 Spina bifida
o Feel :
 Tenderness – Temperature
 Spinal processes – Sacroiliac joint
 Para spinal muscles
o Move : with fixing his waist
 6 moves for back : F – E – RT bend – LT bend – RT rotation – LT
rotation
 7 moves for neck : F – E – RT bend – LT bend – RT rotation – LT
rotation – TMJ
o Meadures
o Joint above and joint below
 Association :
o Head : hearing defect – cleft palate – torticollis
o Fingers : webbed
o Chest : rsep problems
o Cardio : VSD

142
143
Others
144
 Approach of others or general stations
 Opening statements :
1. Parents had concern about their child HT or WT
2. Child is exposed to bullying issues in school due to his WT
or HT
3. Look at the child and tell me what you want to examine
4. Examine the child skin
5. Examine head and neck of the child
 Approach : according to opening statement
 1 and 2 : General observation >> Measures and plot >>
General exam including the maneuvers
 3 : You will tell the examiner the striking features you
notice on the patient , then you will tell him what you
want to exam . examiner will reply by one of these
answers >> Go on or he will ask you a specific task, for
example : you notice striking features ( tall stature , thin
long fingers and median sternotomy scar ), you will ask
the examiner to take his measures, examine his heart
and survey of other systems , his answer will be go on or
just examine his heart
 4, 5 : General observation >> General examination
including the maneuvers >> measures if time allowed ( if
no time you will say , I want to take measures and plot )

‫ لو انت هتعمل القياسات في االول وانت عارف نفسك بطئ خليها‬: ‫مالحظة هامة جدا‬
‫في االخر عشان لو مفضلش وقت متضيعش عليك المحطة في القياسات‬

145
 General observation: WIPE WINDS ‫هنقولها ازاي‬
 I will enter the room
 Wash my hands, introduce myself and during the rapport
with the child any comment about speech and mentality?
 Any unusual features?
 Did the child bring anything in exam room or any family
member accompanying him?
 Inspect the neck : may be the case is thyroid >> ‫بصة سريعة‬
 Measures : according to the case >> tall, short or obese
 Plot : be sure from color and name of centiles you given
 Leg, Gait and Back:
 Leg and back: exclude neurocutaneous syndromes and
hypermobility >> just inspection of skin and ask patient for
touch the ground with his hands while knee is extended
 Gait: rapid screening not formal exam >> ‫روح وتعالي‬
 Maneuvers: according to the case >> tall , short or obese
 Sitting ‫وهو قاعد‬: from nail to neck
 At bed ‫وهو نايم‬:
 Chest and heart : rapid inspection and auscultation
 Abdomen : inspection and superficial palpation
 LL : inspection
 I would like to complete my exam by … and ask mother
about… then Thanks and cover

146
 Measures
1) Standing HT: while standing against the wall , legs straight and arm at
sides , make sure head, shoulders, buttocks and heel touching the wall
>> make a mark on top of head , let the child go and measure

2) Sitting HT: ‫الزم تفرش حاجة علي االرض قبل ماتقعده ضهره مفرود مالمس للحائط‬
 Meaure from top of head to ileum and must compare its relation to
standing HT ( Normally sitting HT is 50% of standing HT >> if sitting is <
7 cm ,, propionate …if > 7 cm ,,disproportionate

3) Arm span : measure of distance between tips of both hand fingers

and must compare its relation to standing HT , normally equal.. if arm
span > HT = long arm span

NB1: if obese case, measure only HT and ask examiner

about BMI
147
Plot

148
149
 Maneuvers of short cases
1) Asymmetry: put your hand palm to palm in front of you , noticed in
Russel Silver syndrome, NF and fractures

2) Make a star : Trident hand in achondroplasia , Polydactyly in Ellis van

creveld , Clindactyly in russel silver syndrome and
 Syndactyly in Apert syndrome

3) Make a fist : short 4th and 5th metacarpal bones noticed in Noonan,
turner and pseudo hypoparathyroidism

4) Mid-thigh : put tip of middle fingers at mid-thigh , short arm in

achondroplasia and Ellis Van Creveld syndrome

5) Thumb to shoulder : overshooting in achondroplasia and

undershooting in Ellis Van Creveld syndrome

150
 Maneuvers of tall cases
1. Symmetry: same as in short stature
2. Skin elasticity: he do it to himself

3. Beighton score :

4. Marfan signs : a) thumb sign ( Sternberg sign ) and b) little

finger sign ( walker sign )

151
 Maneuvers of obese cases

1) Check the mentality: during the rapport

 Normal mentality in endocrinal causes
 Abnormal mentality in syndromic causes
2) Symmetry: as in short and tall cases, noted in BWS and
fractures
3) Star: polydactyly or scar of removal in LMB syndrome
4) Fist: short 4th and 5th metacarpal bones noticed in pseudo
hypoparathyroidism
5) Squatting ( incomplete Gower sign ) : check for proximal
myopathy

NB: if the case is short and obese, you will do maneuvers of

obese only

152
 Short stature cases
Disproportionate:
 Achondroplasia – Hypochondroplasia – EVC
 Rickets – OI – MPS ( if fractures happened )>> ‫بيجوا كدة وكدة‬
 Fanconi anemia ( ‫) بيجي كدة وكدة‬
Proportionate with common features:
 Turner – Noonan ( -- mentality )
 William ( -- mentality )
 Conrnia de lange ( -- mentality )
 Sekel – Sanjat sakatti – Rubenestein Tybi ( -- mentality (
 Treacher Collin - Goldenhar
 Russel silver
 Rickets – OI – MPS
 NF – TS
 Fanconi anemia
 Craniocynostosis
Proportionate with no features:
 Constitutional – Familial
 Endocrinal : --GH ( ‫ – ) ميسي‬Panhypopitutarism –precious
puberty – Cushing
 Chronic diseases
Proportionate with uncommon features : just describe what
you see
Short with hypermobility : Rickets – OI – Achondroplasis –
hypochondroplasia

153
 Rickets
 Proportionate ( but if fractures >> Disproportionate )
 Normal mentality except Sanjad sakati syndrome
 Not obese
 Unusual features: large and box shaped head( HC to be
measured )- bossing forehead - alopecia totalis – lost eye brows
- dental caries or crowding – jaundice in chronic liver disease
 Gait : waddling ( due to associated myopathy )
 Back : lordosis – scoliosis - hypermobile ( complete beighton
score )
 LL : Bowing – Genu varum – Genu valgum – fractures and callus
– broadening of end of long bones – pes planus – Beighton
score
 UL : Broadening – deformity – hypermobility
 Axilla : comment on axillary hair
 Chest : pectus craniatum – pigeon chest – rosary beads –
Harrison sulcus – portacath for biphosphonate IV in
hypophosphatemic rickets – ascultate rapidly to exclude resp
infection
 Abdomen : ptosed liver and spleen – scar of peritoneal dialysis
in CKD
 I would like to complete my exam by : BP ( if CKD ??)
 I will ask mother about delayed dentition – nutrional H if below
5 years

154
155
Signs of rickets ( notice nutritional common in dark skin)

Hypophosphatemic rickets ( run in family )

Type 2 dependent rickets ( alopecia totalis )

156
157
Cupping – frying – widened joint space

Osteopenia – greenstick fracture

158
 DD of bow legs and knock knees
1) physiological : resolve by 3 years
2) Bone injury : trauma, infection, tumor
3) Rickets
4) Skeletal dysplasia
5) NF1: pseudoarthrosis
6) CP
7) Blount disease
8) Sanjad sakati syndrome
Complications of rickets
 Short stature
 Deformities
 Fractures
 Dental malocculsion
Treatment
 Nonmedical:
 ++ intake of calcium and vit D rich sources ( Broccoli – meat – Egg
– cheese – Fish )
 Exposure to UVR
 Medical :
 Inactive form of Vit D >> nutrional causes
 Active form in >> renal and dependent types
 Phosphorus : in hypophosphatemic type
 IV Bisphosphonates : in dependent types
 Team:
 Dietitian
 Physiotherapy - Occupational
 Team for associated condition

159
 Sanjad sakati syndrome
 Middle east syndrome – AR
 Severe prenatal and postnatal growth retardation
 Very short (usually disproportionate)
 Congenital hypoparathyroidism
 Mild to severe mental retardation
 Presented by seizures and repeated chest infections
 Genitalia: cryptorchidism in males
 Special features: ‫كل حاجة صغيرة ماعدا ودانه كبيرة والفيلترم طويل‬
 Microcepahly
 Large ears
 Deeply seated eye – enophthalmus – corneal opacification
 Peaked nose – depressed nasal bridge
 Long filtrum
 Enamel hypoplasia
 Micrognathia

160
 Blount disease
 Painless medial condylar swelling( No signs of arthritis ) - AR
 Bowing and short involved leg
 May be unilateral or bilateral
 3 types : infantile – juvenile - adolscent
 Risk factors: africoarabian – obesity – early walker
 Diagnosis of exclusion : not corrected tibial bowing at 4 Y of age ,
blount disease must be considered
 Approach for diagnosis if MSK case >> ITP + G.exam to exclude other
signs of rickets
 Complication : common peroneal nerve palsy – compartemental
syndrome – ant tibial oculusion - recurrence
 Investigations : Bone profile to exclude rickets – X ray
 Treatment : braces at 2-3 years – surgery at 4 years

Unilateral Bilateral
161
 Osteogenesis imperfecta
 Collagen disease type 1 – AD – 4 types – 1 and 4 that you will see in the
exam
 Disproporniate short stature ( cause of fractures )
 Not obese - Normal mentality - Delayed puberty
 Supporting aids : +-
 Gait : waddling or limbing
 Back : deformities hypermobile but not adviced to do cause of
fractures
 LL - UL : bone deformities – bruises - scars
 Head: Triangular face – blue sclera - broken discolored teeth – hearing
aid
 Chest : barrerel shaped – callus – portacath for IV biphosphonate
 I would like to complete my exam by :
 Assessment of hearing ( CHL ) and vision
 Cardiac exam : MVP – Aortic dilatation
 Chest exam : RLD if scoliosis present
 DD: NAI – Metabolic bone disease – MPS – Skeletal dysplasia – Severe
vit D resistant rickets
 Investigations :
 Skeletal survey: Dexa scan
 24 hours hydroxyproline in urine
 Hearing assessment ( otosclerosis ‫) العضمة الوحيدة اللي مش هشة‬
 Genetic testing
 Skin biopsy for collagen abnormality
 TTT : Vit D3 – IV bisphosphonate weekly
 Team : MDT
 Advice : careful handling – avoid trauma – genetic counselling – if next
baby diagnosed prenatally adviced for CS to avoid fractures

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 Achondroplasia
 Disproportionate short stature
 Normal mentality
 Gait : waddling
 Back : scoliosis – lordosis – hypermobile
 Nail : dysplastic
 Hand : short broad – trident hand
 Arm : rhizomelia ( overshooting thumb )
 Axilla : normal puperty
 Head : large +- shunt ( HC ) – frontal bossing – depressed nasal bridge
 Mouth : dental malocclusion – high arched palate
 Chest : rosary beads – Harrison sulcus
 Heart : ++ S2 ( PHT ) due to OSA
 Abdomn : scar of VP shunt end
 LL : tibial bowing – knock knee – marfan sign
 I would like to complete my examination by: exam of parents ( AD ) –
ENT and sleep study – spirometry if scoliosis present
 Invetsigations : x ray skull and spine – CT spine ( small foramen
magnum ) – spirometry if scoliosis – genetic
 Complications : spinal stenosis and neurological sequalee – sudden
death from narrow foramen magnum – obstructive hydrocephalus –
PHT ( OSA )
 DD :
 hypochondroplasia : normal interpedicular space – abnormal
mentality
 Ellis van creveled syndrome ( mesomelic shortening )

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 Ellis Van Creveld
 One of skeletal dysplasia called chondro ectodermal dysplasia
 Disproportionate short stature – submental
 Mesomelic shortening ( undershooting )
 Polydactyly – dysplastic nails
 Abnormal teeth – cleft palate
 Narrow chest – short ribs
 Cardio : nonspecific cardiac defects
 Hypospadias in males
 LL : genu valgum
 Ask mom about natal teeth
 Investigations: X ray hand >> fusion of carpal bones - X ray ribs
>> short ribs – Echo - Genetic testing
 Team : MDT

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 MPS
 AR except hunter ( XLR )
 Mentality : (hurler 1 , hunter 2 , sanflippo 3)>> submental – moriquio 4 and
maroteaux 6 are mentally normal
 Disproportionate short stature
 Coarse facies ( except sanflippo , less physical signs ) >>: short neck - large
head ( HC +- shunt ) – frontal bossing – midfacial hypoplasia – prognathism
- large lips
 Corneal clouding and wearing glasses: except hunter
 Nose : polyp – discharge
 Chest : pectus craniatum – prominent lower ribs – noisy breathing or
stridor
 Cardio : cardiomyopathy – PHT ( OSA )
 Abdomen : distended – hernia – HSM
 Back : kyphosis – scoliosis – kyphoscoliosis – skin nodule in scapula in
hunter
 MSK : ITP
 Inspection :short limbs – hand drop – foot drop – muscle wasting
 Touch : bone deformity in UL and LL – broadening and laxity of joints
 PGALS : limited shoulder abduction – limited extension of joints –
limited flexion of fingers
 Investigations : ++ Glycosaminoglycans in urine – enzyme assay – Genetic
testing – X ray ( multiplex dystosis )
 TTT : enzyme replacement in < 2 years – BMT in > 2 years
 Team : MDT including ENT – neurosurgeon for shunt – optha – metabolic –
neurologist – ortho – physio – occupational – dietitian ( change in diet will
not prevent progression but limiting milk, diary and sugar helped some
people
 Complications : atlantoaxial instability – hydrocephalus – intracranial
tumors
 Cause of death : cardiorespiratory failure

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Dystosis multiplex
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 Fanconi anemia ( ‫) الخبيث‬
 Short : proportionate or disproportionate
 Mentality : mental or submental
 Skin : Café au lait macules : must comment on number and size -
bruises
 Hand : pulse difficult to be palpated – absent thumb - absent radius
 Head : microcephaly – pallor
 Cardio : anemic heart ( hemic murmur )
 Abdomen : horse shoe, duplex or absent kidney
 Complete exam : MSK – cardio – abdomen – developmental – tanner
staging
 Investigations :
 CBC : pancytopenia – macrocytic
 BM: hypocellular
 Genetic testing : chromosomal breakage test
 Complications : AML – Suamous cell carcinoma – vulval and vaginal
carcinoma
 Screening : CBC : every 3M - BM : every 1 Y - Female after puberty :
gynecological exam - HPV
 Cause of death : aplastic anemia and malignancy
 TTT :
 Non specific : GCSF – Androgen – Blood transfusion
 Curable : BMT
 Advice : avoid radiation unless indicated – HPV vaccine( < 13 y , 2doses
- > 13 y , 3 doses
 DD : other causes of aplastic anemia - acquired causes of pancytopenia
as HIV – leukemia , lymphoma – radiation – drugs as chloramphenicol
and MTX

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 Turner and Noonan syndrome
 Proportionate short stature
 Mentality : submental ( normal mentality in mosaic turner )
 Dysmorhic features
 Maneuvers : Fist : short 4th and 5th metacarpal bones – wide carrying
angel
 Hand : hypoplastic or hyperconvex nails – thread pulse ( COA in turner
– HOCM in Noonan )
 Axilla : delayed puberty
 Eye : ptosis – squint – epicanthal fold – downslanting palbebral fissure
 Ear : low set
 Neck : short – webbed – low hair line – thyroid
 High arched palate
 Chest : shield chest – wide spaced nipple – scar of cardiac surgery
 Heart :
 Bicuspid aortic valve – COA – AS ( Turner )
 Peripheral PS – HOCM – ASD ( Noonan )
 Abdomen :
 Hoarse shoe kidney in Turner
 Renal hypoplasia in Noonan
 LL : bruises in Noonan syndrome
 I would like to complete exam by :
 Turner : 4 limb BP and full CVS – Tanner – Thyroid – Abdomen –
Developmental – Ask about neonatal lymphedema
 Noonan : Hernial orifices – Genitalia for cryptorchidism –
Developmental – Examine parents ( AD ) – Ask about history of
bleeding tendency

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 Investigations :
Turner :
 Diagnostic : Karyotyping ( 45X0 – Mosiacism (
45X0/46XX)
 Lab : RFT - LH, FSH, Estrogen – TFT – RBS – Celiac screen
 Imaging : U/S abdomen ( streak ovaries – kidney )-
Echo- formal hearing assesment
Noonan :
 Normal karyotyping ( AD )
 Clotting factor defect and abnormal platelet count and
function
 Complications :
 Turner :
 Growth , pubertal delay and infertility
 Celiac , DM and hypothyroidism
 Hearing loss
 Increased risk of gonadoblastoma
Noonan : increased risk of leukemia
 TTT : both are treated by GH ( in turner we can give estrogen )
 Important notes about GH :
 Visual field must be done before giving
 Other indications : GH def – Prader willi syndrome – RSS -
CKD – SHOX gene def – SGA not catching growth by 4 years
 Side effects : IIH – lipoatrophy or lipohypertrophy –
Scoliosis worsening – OSA worsening in prader willi -
increased risk of cancer - Insulin resistance

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 Russel silver syndrome
 AD( ch 7 or ch 11 ) – X linked
 Proportionate short stature – very thin
 Normal mentality
 Normal or delayed puberty
 Dysmorphic features : triangular face – frontal bossing – blue sclera -
prominent nasal bridge – downward corner of mouth – small chin
 Back : café au lait patches – springle deformity – scoliosis
 Maneuvers : asymmetry >> hemihypertrophy in UL and LL
 Hand : asymmetry – clinodactylt – syndactyly
 Heart : non specific cardiac lesion +- median sternotomy
 Abdomen : mass ( wilm’s tumor )
 Genitalia : hypospadias in males +- cryptorchidism
 LL : Asymmetry
 Complete exam by : genital exam – spirometry if scoliosis present
 Ask mother about : Feeding difficulties – GERD – Hypoglycemia –
developmental H
 Investigations :
 Diagnostic : genetic testing
 Lab : RBS for hypoglycemia
 Imaging :
o X ray limb >> clindactyly – small middle phalanx- delayed
bone age
o X ray spine >> springle deformity
o Abd U/S : Wilm’s tumor
o ECHO
 TTT : Growth hormone
Remember CATS >> Cachexia – Clindactyly – Café au lait patches –
Cardiac lesion – Asymmetry – Triangular face – Springle deformity
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 William syndrome
 Proportionate short stature + Submental + cocktail characters
 Dysmorphic face : microcephaly – puffy eyelids – waering glasses - full
checks with wide smile – long philtrum( means smooth philtrum + thin
upper lip) – thick lower lip – separated teeth
 Eye: satellate iris
 Hand : thready pulse of AS
 Heart : supravalvular AS – may median sternotomy scar
 Abdomen : bruit of RAS
 Complete my exam by : Full CVS exam – BP – Abdomen exam – Eye
exam ( hypermetropia ) – developmental assesment
 Ask about : neonatal hypercalcemia – hearing screen
 Investigations :
 FISH study
 RFT
 Echo – doppler U/S abd
 Slit lamp – hearing assessment
 Follow up :
 Calcium and ca / creat ratio every 1 – 2 years after diagnosis of
neonatal hypercalcemia
 Serum creat : 2 – 4 years
 Celaic at 3 years and if symptomatic
 BP yearly
 Visual : 6M – 1 y
 Hearing : at 1.5 – 3 – 5 – 10 years
 Doppler U/S : 6M or if become symptomatic
 CVS : yearly for 4 years
 Team : MDT
 Cause of HTN in William syndrome : RAS – AS

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 Cornelia de lange syndrome
 Proportionate short stature
 Submental
 Not obese
 Dysmorphic features : Long eye brows ( synophorus ) – Long
curley eye lashes – Nystagmus – Nystagmus – Low set ears –
Long filtrum – Micrognathia – Mouth turned upward
 Maneuvers : Difficult to do fist – Thumb not reach shoulders
 Hand : micromelia ( Lobester hand ) – ulnar dysplasia –
syndactyly
 Heart : non specific cardiac lesion ( VSD – ASD – PS )
 LL : Full of hair
 Complete my exam by :
 Full CVS exam
 Developmental assessment
 Formal visual assessment
 Formal hearing assessment
 Examine family ( AD )
 Investigations : Genetic – Echo – X ray limb
 Team : MDT

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 Rubinstein Taybi syndrome
 Proportionate short stature
 Submental
 Gait may be abnormal
 Dysmorhic features : microcephaly – long eye lashes – beaked nose
with prominent nasal septum – abnormal teeth
 Hand : short broad thumb – large nails
 Cardio : VSD
 LL : short broad big toes
 Complete my exam by : parents exam ( AD )
 Diagnosis : genetic ( microdeletion on Ch 16 )
 Has high risk of :
 Complications from anesthesia
 Lymphoma and leukemia

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 Digeorge syndrome
 Submental
 Dysmorphic features : Ptosis – Hypoplastic auricles – Nasal sound –
Cleft lip +- palate
 Back : scoliosis
 Hand trmors
 MSK : muscle and joint pain
 Chest : repeated chest infection
 Heart : Interrupted AA – Truncus arteriousus – F4 – VSD
 Complete exam by : Complete CVS exam - Chest exam - Full
developmental assesement ( ADHD – Autism ) - Hearing assessment -
Examine parents ( AD )
 Ask mother about : Hypotonia in infancy - Feeding difficulties -
Recurrent chest infections - Tetany or seizures
 Invetigations : 1) Genetic : microdeletion on ch 22 2) Lab : low Ca ,
PTH and Igg 3) X ray chest 4) Echo

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 Treacher Collins syndrome
 Mandibulofascial dystosis
 Proportionate short stature
 Normal mentality ( but some cases abnormal )
 Dysmorphic features :
 Eye : eyelid cloboma – antimongoloid palbebral fissure – sparse
eye lashes
 Nose : choanal atresia
 Ear : microtia – conductive hearing loss
 Zygomatic and mandibular hypoplasia
 Cleft lip / palate
 Micrognathia
 Heart : VSD
 Complete exam : parents exam ( AD ) – Cardio exam
 Ask mother about : neonatal airway difficulties
 Team : MDT
 DD : Goldenhar syndrome – CHARGE

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 Goldenhare syndrome
 Oculo auriculo vertebral syndrome
 Proportionate short stature
 Normal mentality ( 15 % submental )
 Dysmorphic features
 Fascial asymmetry
 Neck : short
 Eye : coloboma – epibulbar dermoid
 Ear : coloboma – ear anomalies ( CHL – SNHL )
 Cleft lip / palate
 Back : spina bifida – hemivertebrae – fused vertebrae
 Hand : pulse is very important
 Chest : lung hypoplasia
 Heart : VSD – F4 – PDA
 Abdomen : MCDKD
 Complete my exam by : visual – hearing – developmental

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 Tall stature cases

 Proportionate with symmetry:

Familial
Simple obesity
Precious puberty
Hyperthtyroidism
Ehler danlos syndrome ( may come short )
Fragile X syndrome
Sotos ayndrome
Acromegaly
 Proportionate with asymmetry:
 NF
 BWS
 Broteus syndrome
 Disproportionate :
o Marfan syndrome
o Homocystinuria
o Klienfelter syndrome
 Tall with hypermobility :
 Marfan syndrome
 Ehler danlos syndrome
 Fragile X syndrome
 Normal variant
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 Marfan syndrome
 Normal mentality
 Unusaual features : Thin long face – wearing glasses
 Back :
o Scoliosis
o Scapula : winging
o Spots : café au lait
o Hypermobile
 Measures :
o Disproportionate tall stature ( LS > US by 15 -20 cm )
o Long arm span ( arm span > HT by > 2 cm )
 Maneuvers :
o Beighton score > 4
o Skin elasticity ++
o Symmetrical
o Marfan signs : Thumb sign – Wrist sign
 Hand :
o Long cylinder fingers ( arachnodactyly )
o Marfan signs
o Hypermobility
o Pulse : pounding pulse ( water hummer pulse ) >> AR
 Eye :
o Glaucoma – Cataract
o Blue sclera
o Lens dislocation ( up and out )
o Others : myopia – retinal detachement
 Mouth : Dental crowing - High arched palate
 Neck : Skin elasticity - Thyroid ( ++ ) or scar of removal

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 Chest : Pectus craniatum or excavatum - Scar of cardiac repair - Scar of
chest tube ( pneumothorax )
 Heart : diastolic murmur ( AR – MVP ) – Aortic aneurysm – MR
 LL : Pes planus – bruises ( platelet dysfunction ) – hypermobility
 Complete my exam by :
o Complete CVS exam
o Chest
o Tanner staging
o Slit lamp for lens dislocation after liasin with optha
 Diagnosed clinically by : A) if positive FH >> one major + one minor B) if
no FH >> 2 major + one minor :
o Major : (disproportionate tall statur – pectus – wrist sign – elbow
extension > 170 degree – scoliosis – pes planus) – lens dislocation
– AR or aortic dissection – dural ectasia in MRI
o Minor : long thin face – myopia – high arched palate – stretch
marks
 Investigations : Genetic study AD ( fibrillin gene ) – bone age
 Annual review:
o Echo : to compare aortic root dimensions on chart
o BP : for fear of rupture of dissected aortic aneurysm
o Ophthalmological : for retinal detachement – glaucoma – cataract
 Team : MDT
 Advice regarding the hypermobility :
o Avoid overuse of joints ( jemenisium – belly dancing )
o Avoid crossed legs
o Encourage some sports like swimming
o Can use special pens and shoes
 Causes of chest pain in marfan syndrome: pneumothorax – rupture
aortic aneurysm – pulmonary embolism

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 Homocystinuria
 AR - Disproportionate short stature - Submental – Psychatric problems
 Gait : hemiplegic gait ( thromboembolic )
 Back : scoliosis
 Eye: wearing glasses - lens dislocation down and in – optic atrophy (
thromboembolic )
 Heart : normal – may be corpulmonale from scoliosis – BP ++ in
papillary necrosis ( thromboembolic )
 Abdomen : RVT
 LL : Joint contracture ( scar of release ) – osteoporosis( deformities
from fractures - Pes cavus
 Complete exam by developmental assesment
 Investigations :
o Diagnostic : Genetic - high Methionine – Decreased cystathionine
synthetase – increased homocysteine in urine
o Lab : CBC – Clotting factors – RFT
o Imaging : U/S abdomen – MRI brain – Dexa scan – Fundus exam
 Follow up : homocysteine level – Dexa scan – regular ophthalmological
exam
 Management : MDT - folic acid – B6 – Aspirin – Diet low in methionine

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 Ehler Danlos syndrome
 AD connective tissue disease associated with platelet dysfunction,
fragile arteries
 Proportionate tall stature ( come in some exams >> short )
 Normal mentality
 Back : kyphosis – scoliosis - beighton score
 Hand : pounding pulse ( AR ) – beighton score
 Eye : blue sclera
 Neck : skin elasticity ++
 Mouth : high arched palate
 Chest : pectus excavatum
 Heart : AR – MVP
 Abdomen : hernia or scar of hernia repair
 LL : bruises – cigarrete scars – pes planus – beighton score
 Complete my exam by : Cardio – Abdomen – Eye exam – spirometry
 Ask about delayed walking , difficult writing and swallowing
abnormalities ( May need NGT feeding )
 Investigations : Bone age – Bleeding profile – Echo – Genetic
 TTT : MDT

Bruises – Cigarette scars

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 Fragile X syndrome
 XLR , trinucleotide repeat expansion CGG
 Submental
 Dysmorphic : macrocepahly - long narrow face – big anteriorely
prortruded ears – prominent Jaw
 Hearing aid ( repeated OM lead to CHL )
 Proportionate tall stature ( pre and post pubertal )
 Beighton score > 4
 Normal puberty
 High arched palate
 Mitral valve prolapse
 Genitalia: Macrorchidism( after puberty )
 Complete my exam by : Full cardiac – Genitalia – developmental –
hearing assessment
 Ask about: FH of similar condition – school performance – behavioral
disturbances
 Team : MDT

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 Sotos syndrome
 Called also cerebral gigantism – AD
 Submental
 Specch : monotone voice
 Proportionate short stature ( tall as child – normal final HT )
 Dysmorphic : large head with frontal prominence – large ear and nose
 Scoliosis
 Hand and feet : large
 Precious puberty
 Abdomen : wilm’s tumor – hepatic carcinoma
 Genitalia : large
 Complete exam by : tanner staging – developmental assesment
 Ask about :
 Large for gestational age
 Neonatal jaundice
 Poor feeding at birth
 Excessive growth in first year of life
 Seizures
 FH of same condition
 Investigations : Genetic - Sex hormones -Wrist x ray ( advanced bone
age ) - CT brain : ventriculomegaly

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Born macrosomic

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 Obesity cases
Obesity and tall :
 Simple obesity
 Kleinfilter syndrome
 Beckwith wideman syndrome
Obesity and short:
With normal mentality :
o Cushing disease
o Hypothyroidism
o GH deficiency
o Panhypopitutarism
With submentality :
o Down syndrome
o Laurence moon Beidel
o Prader willi syndrome
o Pseudohypoparathyroidism

Obesity investigations
 First line ( for all cases ):
 BP - Pubertal assessment
 BG – HBA1C
 Lipid profile - LFT
 TFT
 Second line ( especially if features present )
o Genetic
o 24 H BP - 24 H salivary cortisol
o OGTT
o Calcium and phosphorus
o Sleep study
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 Kleinfilter syndrome
 Most common cause of primary hypogonadism and infertility in males
 Submental
 Disproportionate tall stature
 Obsese , feminine distribution
 Gait : waddling or limbing ( SUFE )
 Normal axillary hair ( adrenal working well )
 Gynecomastia +- pulmonary valve disease
 Micropenis + small testis + normal pubic hair
 Complete exam by tanner staging and full developmental assessment
 Investigations : Kayotyping 46 XXY - low testosterone – high FSH and
LH
 High risk to testicular cancer and ADHD
 TTT : testosterone replacement

205
 Beckwith - wiedemann syndrome
 Submental ( if prolonged neonatal hypoglycemia occur )
 Proportionate tall stature
 Obese
 Puberty : describe what you will find
 Dysmorphic : face asymmetry - microcephaly – macroglossia –
transverse ear crease – face hemangioma
 Gait : limbimg or waddling
 Asymmetry in both sides
 Heart : ++ S2 ( PHT due to OSA )
 Abdomen : Abdominal wall defect ( hernia ) or scar of repair – HSM –
Tumors ( Wilm’s – Hepatoblastoma – Neuroblastoma )
 Complete exam by : developmental assessment – measrements of
parents
 Ask about : BW – History of hpoglycemias – Feeding history – FH of
same condition ( AD )
 Diagnostic criteria : 3 major or 2 major + > 2 minor
Major : Macrosomia – Macroglossia – Abdominal wall defect
Minor : Ear lobule crease – Haemangioma of face –
hemihypertrophy – HSM – Hypoglycemia
 Investigations :
 Diagnostic : Criteria + Genetic
 Lab : RBS - alpha fetoprotein till age of 4 years – obesity
investigations
 Radiological : U/S till age of 8 years ( every 3-4 M ) – Echo ( PHT )
 Sleep study
 Team : MDT including pediatric surgeon for >> abd wall defect –
macroglossia affecting airway – wilm’s tumor – hemihypertrophy

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 Cushing disease
 Normal mentality - Proportionate short stature
 Unusual features : Moon face – Acne – Hirsutism
 Precious puberty in male and verilization in female
 Gait : Waddling ( myopathy )
 Back : Interscapular pad of fat – Kyphosis – Scoliosis
 Limbs : thin skin with shining of SC blood vessels – Bruises – Proximal
myopathy
 Axilla : Tanner – Acanthosis negricans
 Head : Malar rash – Alopecia – Mouth ulcers ( search for cause ) – Cataract
– Dental caries
 Neck : Acanthosis negricans
 Chest : Wheezes – Bruises – Stria
 Abdomen : Stria – Scar - Mass
 Complete exam by : Genital exam ( precious puberty ) –– visual field exam(
bitemporal hemianoia ) and fundoscopy for pituitary tumors
 Ask about intake of steroids ( most common cause )
 Non iatrogenic :
 ACTH dependent ++ ACTH ): from pituitary or ectopic tumor
 ACTH nondependent -- ACTH : Active adrenals – Macune Albright
syndrome
 Investigations :
o Bed side test : RBS – BP
o Confirmation of cushing diagnosis: 24 H urinary cortisol -
Dexamethasone suppression test after liasin with endocrinologist
o Search for cause : ACTH level - MRI brain - CT abdomen
o Search for association and complication : like NS – SLE –
Dermatomyositis
o Obesity investigations
 Team : MDT
 Advice : Diet – Steroid advice
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 Panhypopitutarism
 Normal mentality
 Samall for age
 Midfacial hypoplasia +- cleft palate
 Short – Obese
 Small hands and feet
 Delayed puberty
 Micropenis
 Eye : nystagmus – visual field defect
 Complete exam by : visual field examination ( bitemporal
hemianopia )
 Investigations : MRI brain – lab ( decreased TSH – T4,
decreased FSH – LH and decreased IGF1
 DD : GH deficiency ( ‫) ميسي‬

Midfacial hypoplasia + eye problema

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 Pseudohypoparathyroidism
 Normal mentality , sometimes submental
 Short – Obsese
 Short and broad hands and feet
 Short 4th and 5th metacarpal bones
 Rachitic manifestations
 Investigations : ++ PTH ++ PO4 ++ ALP and -- Ca
 DD : Pseudopseudohypoparathroidism>> same skeletal
manifestations but normal calcium profile
 NB : If case of rickets in exam and no obvious cause , look at
neck , may find scar of iatrogenic removal of parathyroid
gland

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 Prader willi syndrome
 Submental - Speech articulation defect
 Short – Obese
 Unusual features : silky hair – narrow forehead – squint –
almond shaped eye – small mouth+mouth corner turned down
+ sticky saliva – high arched palate
 Gait : may limping if SUFE present
 Hand : short hand and fingers
 Axilla : delayed puberty
 Chest and Heart : Gynecomastia -30% cardiac lesion ++ S2 >PHT
due to OSA
 Abdomen : Stria – Fatty liver
 LL : small feet – small shoes
 Complete exam by : Genital exam ( microorchidism ) – Full
development
 Ask about : Feeding history in infancy then hyperphagia –
school performance
 Investigations : Genetic ( Ch 15 ) – Echo – Sleep study -
Decreased LH, FSH and testosterone
 Diagnostic criteria ( 5 points < 3 years and 8 points > 3 years ) :
o Major criteria ( 1 point for each ) : Floppy - Feeding
difficulties - Facial features ( small mouth, hand and
almond eye ) – Hypomentality - Hypogonadism
o Minor criteria ( 0.5 point for each ) : Decreased fetal
movement - Silky hair - Skin picking - Sticky saliva – Squint -
Speech articulation - Sleep apnea

213
214
Skin picking in PWS
215
 Laurence moon beidle
 Submental
 Short – Obese
 Wearing glasses ( retinitis pigmentosa or cataract ) +- hearing aids
 Polydactyly or scar of removal
 Delayed pubery
 Acanthosis negricans
 Gynecomatia - Stria
 ++ S2 ( PHT due to OSA )
 Abdomen : PCKD or renal scar
 Genitalia : hypogonadism
 LL : Knock knee
 Complete exam by : Genitalia – Abdomen – Hearing – Vision
developmental
 Ask about : Appetite – Night vision – School performance
 DD :
 Bardet beidle ( polydactyly – 0besity – good mentality
 PWS
 Pseudohypoparathyroidism
 Investigations :
o Diagnostic : genetic ( AR )
o Lab : KFT – Sex hormones – obesity investigations
o Radiology : Abd U/S – Echo ( PHT )
o Hearing and vision assessment
 Team : MDT
 Advice :
 Take care of night vision
 Genetic counselling

216
217
 Approach for hidden lesions
 Opening statements :
 Examine patient skin
 Look at patient and tell me what you would like to
examine
 Examine neck
 Examine thyroid
 WIPE WINDS
 Vitals and measures
 Unusual features
 ‫ واقف‬:
 Gait : ‫روح وتعالي‬
 Back : Skin – lean forward
 LL : Skin
 ‫ قاعد‬:
 Pulse
 Survey of UL skin
 Axilla
 HC
 Head and neck ( thyroid )
 ‫ نايم‬:
 Chest rapid ascultation
 Heart rapid ascultation
 Abdomen superficial palpation
 Complete exam by >>> ‫علي حسب الحالة‬

218
 Neurofibromatosis
 WIPE WINDS
 Back : Café au lait patches( must comment on number and size ) –
Deformity
 Nail : Neurofibroma
 Hand : pulse +- RFD with permission
 Axilla : puberty – Frickling
 Head: Face asymmetry - HC ++ >> Search for shunt - Neck thrill of COA -
Throid swelling - Eye : ptosis – proptosis – lish nodule ( slit lamp ) – visual
acuity
 Heart : COA – cardiomyopathy
 Abdomen : renal bruit ( RAS ) – Wilm’s tumor – end of VP shunt
 LL : Tibial bowing ( pseudoarthrosis ) – Hyperreflexia if brain tumor -
Hemiplegia
 Complete exam by :
o BP
o Tanner staging : ?? precious puberty
o CVS – Abdomen – Neuro - Development
o Slit lamp ( ‫) بتاع الرمد‬
o Examine parents
 Criteria for diagnosis : two or more of 7
1) First degree relative ( AD )
2) 2 or more neurofibroma or one plexiform neurofibroma
3) 2 or more lish nodules
4) Axillary or inguinal freckling
5) Optic glioma
6) Tibial bowing ( anterolateral ) or face asymmetry
7) 6 or more café au lait patches >> 0.5 cm prepubertal – 1.5 cm
postpubertal

219
 Tumors associated with NF1 : Optic glioma – Meningioma – Ependymoma –
Astrocytoma – Wilm’s tumor – pheochromocytoma - Medullary thyroid
carcinoma
 Investigations for complications and association :
o Lab : KFT – TFT - Tumor markers – VMA in urine
o Imaging : Echo – Abd U/S
o Slit lamp
 He will catch HT ?? : If precious puberty happen >> no chance to catch …..if
no puberty yet , he can reach HT
 Abd pain in NF1 : Wilm’s tumor – Shunt nephritis
 Headache in NF1 : HTN – Tumor
 HTN in NF1 : COA – RAS – Pheochromcytoma – Wilm’s tumor –
Noradrenaline coming from neurofibroma

Face asymmetry – ptosis – proptosis Tibial bowing

220
221
 Tuberous sclerosis
 WIPE WINDS
 Back : Ash leaf macules – Shagreen patch – Café au lait
 Hand : thready pulse ( AS ) – periangual fibroma - Axilla for pubery
 Teeth : Enamel hypoplasia – gingival fibroma
 Head : Size +- VP shunt
 Face : Adenoma sebaceum – Face plaques - visual acuity
 Heart : rhabdomyoma causing ventricular outlet obstruction
 Chest : ILD – lung lymphangioliomatosis
 Abdomen : Renal bruit of RAS – Renal angiomyolipoma – PCKD – Scar
of shunt end
 Complete exam by : BP – Rectal exam ( prolapse ) – opthalmological –
developmental – examine family member ( AD )
 Ask about : FH of same condition – Antieplileptic med – Team
Following with
 Diagnostic criteria : 2 major or one major and 2 minor
o Major : N S R
 Neurological : convulsions – brain tumors – psychological
 Skin : Ash leaf – Adenoma sebaceum – Shagreen patch –
Periungual fibroma
 Retinal : Phacoma or hamartoma – Rhabdomyoma - Renal
angiomyolipoma
o Minor : Tubers – Teeth abnormalities – Rectal polyp – PCKD
 Complication : Siezure – learning disability – Autism – Tumors (
Astrocytoma , subendymal nodule and glioma )
 Investigations :
o Lab : GH – Tumor markers – RFT – Wood light exame– Genetic t
o Radiological : U/S abd – Echo – ECG – CT – MRI – EEG
 Long term FU for reanal and brain tumors every 1- 3 years

222
223
 Fibrous plaques in face and scalp

Astrocytoma Rhabdomyoma

Renal angiomyolipoma Lung lesion

224
 Sturge weber syndrome
 Hemangioma ( portwine stain ), glaucoma and brain hamartoma at one
side
 Neurological defecit at opposite side
 Investigations : MRI brain with contrast – formal eye exam – EEG
 Ask about history of seizures
 Team : MDT including neurologist – optha – plastic surgery – phsio and
occupational – neurosurgeon for hemispherectomy if intracatable
seizures

225
 Haemangioma
 WIPE WINDS
 General examination :
 Hand : Pulse – CRF – Cold – Sweaty
 Head : pallor – Jaundice – Fontanel – Scalp hemangioma
 Eye : any hemangiomas around the eye
 Ear lobule : any hemangiomas
 Neck : any hemangioma in neck, tongue or stridor
 Chest : any hemangioma – rapid auscultation
 Heart : rapid auscultation , any galloping
 Abdomen : any mass for internal hemorrhage – superficial
palpation for any pain
 Genital area for any hemangioma
 Back for any spinal hemangioma
 CNS : any weakness
 Local examination of the hemangioma :
 Site – Size with tape – Temp of lesion
 Soft or hard
 Oozing or not
 Crusting or not
 Management :
o ABC – Vitals – Measures
o Measure the lesion and check previous measures for
assessment of progression
o TTT of complications
o Advice : keep lesion not so dry not so moist – keeps nail
short – Try Vaseline
226
227
228
Craniosynostosis

229
Cruzon syndrome

Apert syndrome

Pffifer syndrome
230
 Ectodermal dysplasia
 FTT
 Receding anterior hair line
 Absent eye brows and eye lashes
 Diminished lacrimation
 Abnormal teeth – diminished salivation
 Fair colored and dry skin
 Nail dystrophy
 Hyperthermia
 Recurrent skin and upper respiratory tracts
 Increased incidence of skin cancer
 Some types associated with skeletal deformities or
immunodeficiency

231
 Thyroid examination
1) WIPE WINDS
2) Local examination
3) Eye examination
4) Upper limb exam
5) Lower limb exam
6) I would like to complete my exam by …………..
 Local examination: ‫محتاج كوب ماء‬
 Inspection: From front of the patient
 Site of swelling: unilateral or bilataeral
 Skin: for any signs of inflammation – Any scars
 Movement of swelling with swallowing and protruding of the tongue
 Palpation: From behind of the patient
 Fix one lobe by one hand and exam by other hand
 Movement: Ask patient to swallow water
 Borders, surface and consistency
 Hotness, tenderness and thrill
 Cervical LNS
 ‫هرجع تاني من قدام‬: measurement of swelling, each lobe separately – Carotid pulsation
– Trachea after permission from patient as it painful maneuver
 Percussion: to upper part of sternum to detect if there is any retrosternal extension
 Auscultation: ‫خلي العيان ياخد نفس ويكتمه‬, to detect for thyroid bruit
 Eye examination:
 From front: H shaped movement – Lid lag ( follow my fingers )
 From side: to check for lid retraction
From behind: to check for exomphalus
 Upper limb:
 Hand: Tremors – Sweating – Temperature – Clubbing
 Wrist: pulse per minute
 Forearm: hyper dynamic test – Skin for vitiligo
 ‫ارفع ايدك فوق راسك‬: to check for myopathy
 Axilla: for puberty
 Lower limb:
o Pretibial myxedema
o Ankle reflex: hpo or hyoerreflexia
o Gower sign
 I would like to complete my exam by:
 Blood pressure
 Tanner staging
 History taking about: WT loss or gain – Diarrhea – Palpitation – Menstrual disturbances
if female Pt – FH of similar condition – School performance
232
 Discussion in thyroid station
 DD of neck swelling:
 Midline: thyroid swelling – Thyroglossal cyst – Hemangioma – Tumor
 Lateral: LN – Cystic hygroma – Hemangioma – Hematoma –
Sternomastoid tumor
 DD of Goitre:
 Hyper: Graves – Hashimoto – Toxic nodule – Carcinoma
 Hypo: Iodine def – Hashimoto – Iatrogenic
 Euo: SNG – Hashimoto
 Investigations:
 TFT
 Thyroid Abs if suspected AIDs: TRAB – ATP – ATG – AMA
 Neck US
 Radio isotopic scan
 Treatment:
 Euo: reassurance with FU
 Hyper: Propranolol – Carbimazole – Propylthyouracil for neonate
and pregnant – Thyroidectomy if the definite ttt
 Thyroid storm: ++ HR ++Temp, treated with propranolol and steroids

233
 Cases without common features
) ‫) هتوصف اللي هتشوفه بس‬
 Head :

Microcephaly Macrocephaly

Trigoncephaly
234
 Eye :

Microopthalmia Hypertolerism

Ptosis Coloboma
 Ear :

Microtia Large ears

Low set ears

235
 Nose:

Peaked Depressed bridge

 Mouth:

Long philtrum Retrognathia

 Chest :

p.excavatum p. craniatun widely spaced nipples

236
 Foot :

237
 Fingers and toes:

238
Presentation

239
 How to present cases
3 Categories:
1) Cardio – Abdomen – Chest – Neuro – MSK
2) Others
3) Development
========================================================================
1) Cardio – Abdomen – Chest – Neuro – MSK
3 W 3+- 3 No + Positive findings in same order of examination
 3 W:
o Well or not: pain or distress
o Well communicating or not
o Weight and height: looks appropriate, small, overweight, short or tall for his age, but
also I want measure and plot
Example of 3 W: today I examined………….., he is 13 years old, he looks in pain, but he is well
communicating with me, his WT and HT within average but I would like to plot and measure
 3 + -: if present I will comment, if not present I will not
o Mentality: if present, I will say sub mentality
o Puberty: not in every case
o Syndromic features: if present, I will say unusual features
Example of 3 + -: he is having some sort of intellectual disability, he did not start his puberty
yet and he had some unusual features
 3 Important No: present or not, I will comment on them
o Chest: Distress – Cyanosis – Clubbing + Cough
o Cardio: Cyanosis – Clubbing – Stigmata of HF and IE + Oral hygiene ( Bad or good )
o Abdomen: Pallor – Jaundice – Stigmata of chronic liver disease + if no organomegaly by
palpation + if no ascites if the case is CLD
o MSK and neuro: Scars – Supporting aids – Abnormal movements ( only in neuro )
 Positive findings: in same order of examination >> same steps of approach >> for
example general findings then local findings
========================================================================
Others 3 W 3 + - Features + -
For example: today I examined ………., she is 14 years old, she looks well, she is well
communicating with me. She is very short for her age, HT below 0.4 th centile. She looks
average for her WT. She has some intellectual disability, not starting her puberty yet. She has
some unusual features in the form of short 5 th metacarpal bones, hypo plastic nails. Pulse is
75 per minute with radio radial delay. No axillary hair. She is having high arched palate…..etc

240
 Examples of MSK

Lupus 14 years’ female with RT painful knee >> Task LL

Today I examined…………., she is 14 years old. She looks in pain, well communicating with me.
She looks short for her age and appropriate WT and I need to plot her measures. By general
examination, there is malar rash, alopecia. By lower limb examination there is antalgic gait,
RT knee swelling with redness, by palpation there is hotness, tenderness with limitation of
movements and mild effusion, left knee is ok, Hips and ankles showed normal examination.
UL examination is normal bilaterally. By getting all these together, this is a case of chronic
inflammatory joint disease most probably lupus arthritis and my DD is JIA.
Hemoarthorosis , 7 Y male with elbow swelling >> Task UL
Today I examined …………, he is 7 years old, looks in pain, well communicating with me with
average WT and HT for his age, but I want to measure and plot on the appropriate centiles.
There is no scars or supporting aids. On examination of UL, there is RT elbow swe lling with
redness, it is warm on touch, tender with limitation of flexion, extension, supination and
pronation, left elbow exam is normal, both shoulders and wrist exam were normal. There are
multiple bruises in both UL. LL examination is normal. Putting all these data together, it is a
case of hemoarthorosis due to hemophilia
Achondroplasia, 6 Y male >> Task UL
Today I examined………….., he is 6 years old. He is looking well, well communicating,
disproportionate short stature but I want to measure and plot on appropriate centiles. He has
unusual features in form of large head, mid facial hypoplasia, frontal bossing and depressed
nasal bridge. By UL examination no scars, there is hypermobility by Brighton score, no
limitation of movements. By exam of back, there is lumbar lordosis. By doing PGALS of LL,
there is no limitation of movements. Putting all these data together, it is a case of hypermobile
joints for DD, most probably Achondroplasia.
Psoriatic arthritis >> Task UL
Today I examined…….., she is 5 years old. She looks in pain, well communicating with me. She
is average for WT and HT but I need to measure and plot on appropriate centiles. By general
examination, there is skin rash, pitting nails. By UL examination there is Distal interphalangeal
joints, swelling, tenderness and limitation of flexion, extension, abduction and adduction.
Middle interphalangeal and metacarpophalangeal joint, wrist, elbow and shoulder joints
bilaterally are normal. LL PGALS, there is no limitation of movements. Putting all these data
together, it is a case of chronic inflammatory joint most probably psoriatic arthritis

241
 X linked rickets, 5 years male >> Task LL
Today I examined………, he is 5 years old. He is looking well, well communicating with me. He
looks short for his age with average WT but I need to measure and plot on appropriate
centiles. He has unusual features in form of dolichocephaly, mandibular protruding and dental
caries. By examination of his gait he has waddling gait, also he has scoliosis at RT side in the
thoracic region. He has hypermobility, his beighton score is 6 and by doing PGALS of UL and
LL, there is no limitation of the movement and by general examination he is having bowing of
LL, his chest has Harrison sulcus, there is bilateral bowing, broadening of ankles, there is
broadening of wrist bilaterally. Putting all these together, it is a case of rickets for DD
=============================================================================
Examples of chest
Kartagner syndrome 6 years’ male
Today I examined………., he is 6 years, he well communicating with me, he looks in distress RR
42 per minute. He is small for his age regarding WT and HT with large head but I would like to
measure and plot on corresponding centiles. He has cyanosis, clubbing and multiple scars of
cannulation. There is VP shunt at RT side of the neck, wearing hearing aids bilaterally. There
is RT lateral thoracotomy scar 8 cm, there is dullness on percussion of lower zones bilaterally,
also there is decreased AE bilaterally with crepitation on lower zones. Examination of the
back, there is dullness on percussion of lower zones with crepitation bilaterally on lower
zones. Putting all these data together, it is a case of chronic suppurative lung disease most
probably kartagner syndrome
Asthma, 12 years’ male
Today I examined 12 years, well communicating, looks distressed RR: 35, starting puberty,
looks short for his age and little bit obese, I need to measure and plot on corresponding
centiles. There is some acne and hirsutism, no cyanosis no clubbing, pulse 70 per minute. By
inspection there is increasing in the AP diameter and Harrison sulcus. By percussion there is
hyper resonance bilaterally over the chest. By auscultation, there is decreased AE bilaterally,
wheezes with vesicular breathing. On back examination, hyper resonance and wheezes
bilaterally. Putting all these together it is a case of asthma
Early suppurative lung disease
Appropriate for age regarding WT and HT, Distressed RR:35 , RT lateral thoracotomy, No
clubbing, No cyanosis …rest as local exam in first scenario

242
 Examples of cardio
Turner COA
Today I examined …………., she is 12 years’ old. She is looking well, well communicating with
me. She has some intellectual disability, also she looks short for her age, I need to measure
and plot on corresponding chart. She does not start her puberty yet. She has some unusual
features in form of………………, There is no clubbing, cyanosis, stigmata of HF or stigmata of IE.
Pulse is 70/min, regular, equal on both sides with radio radial delay. She has good oral
hygiene. She has wide spaced nipples, webbed neck and wide carrying angle. The apex in the
5th intercostal space MCL, normal HS. There is ESM on RT upper 2 nd intercostal space referred
to below left scapular border, there is palpable thrill on RT 2 nd intercostal space. Putting all
these together, this is a case of turner syndrome with COA
Down syndrome with Eisenmenger
Today I examined……….., he is 8 years, looks well, well communicating with me. He has some
intellectual disability. He is short for his age, I would like measure and plot on corresponding
chart. He has some unusual features suggestive of down syndrome. He has clubbing and
cyanosis. There is no stigmata of IE. Pulse is 68 per minute, equal on both sides regular. There
is good oral hygiene. Apex on 6th ICS MCL. There is a heave on LLSB. There is no murmur, but
2nd sound is accentuated. Putting all these data together, this is a case od down syndrome
with Eisenmenger syndrome
=============================================================================
Examples of Abdomen
Thalassemia 15 years
Today I examined……….., she is 15 years old, she looks well, well communicating with me. She
is short for her age and looks underweight, I would like to measure and plot on corresponding
chart. She does not start her puberty yet. There are unusual features in form of maxillary
hyperplasia, mandibular protrusion, frontal bossing and protruding teeth. By doing general
examination, there is clubbing, pallor and jaundice. There is no stigmata of chronic liver
disease. There are multiple cannulation scars. Pulse is 100 per minute equal on both sides with
good volume. By inspection of the abdomen is distended, umbilicus is shifted downward,
there is depigmentation all over the abdomen. By palpation, RT lobe of liver is 10 cm below
RT costal margin in MCL, Lt lobe is 8 cm below xiphisternum , liver span is about 17 cm, there
is splenomegaly 7 cm below lt SCM. By percussion to confirm the hepatomegaly and
splenomegaly. By auscultation, the bowel sounds are audible. Putting all these data together,
this is a case of HSM, most probably thalassemia

243
 Nephrotic syndrome
Today I examined…………, he is 7 years old, looks in distress, well communicating with me. He
is appropriate for his age regarding WT and HT. There are multiple cannulation scars on both
forearms. There is no pallor or jaundice. There is bilateral puffy eyes, acne, hirsutism. By
auscultation of the chest there are no added sounds. There is abdominal distension with
umbilicus shifted downward, by palpation there is no tenderness or organomegaly. By
percussion, there is moderate ascites. There is bilateral LL edema till middle of the thigh.
Putting all these data together. This is a case of generalized edema, most probably nephrotic
syndrome
Wilson syndrome with PHT
Today I examined………., he is 14 years old. He is small for his age regarding WT and HT, I need
to measure and plot on appropriate chart. He did not start his puberty yet. By general
examination, there is clubbing, palmer erythema, tremors, multiple cannulation scars on both
forearms and there is pallor and jaundice. By inspection of chest, there is spider nevi and
gynecomastia. By inspection of abdomen, it is fully distended with umbilicus shifted
downward and everted. By palpation, there is no tenderness, there is splenomegaly 11 cm,
below left SCM. By percussion, there is ascites by shifting dullness. Putting all these data
together, it is a case of PHT, most probably Wilson disease

Von Gierke disease

Today I examined……………, he is 7 years old, looks well, well communicating with me. He is
short and little bit underweight, I need to measure and plot on corresponding chart. There is
no pallor or jaundice. There is no stigmata of chronic liver disease. There is multiple
cannulation scars on both forearms. There is unusual features in the form of doll like face.
There is NGT. By inspection of the abdomen, it is fully distended with umbilicus everted and
shifted downward. By palpation, the RT lobe of liver is 20 cm below LT SCM, LT lobe is 8 cm
below xiphisternum, liver span is about 25 cm, spleen not palpable, there are bilateral
palatable masses may be renomegaly. By percussion, hepatomegaly is confirmed. No ascites
and intestinal sounds are heard. Putting all these data together, it is case of hepatomegaly
most probably glycogen storage disease type 1

Sickle cell disease

Today I examined………., she looks well, well communicating with me. She looks short for her
age and appropriate WT, I need to measure and plot on corresponding chart. She does not
start puberty yet. Pulse is 88 per minute. She looks pale and jaundiced, there is no stigmata
of chronic liver disease. Her abdomen is slightly distended, RT lobe of the liver is palpable 7
cm below RT SCM, LT lobe is 4 cm below xiphisternum, no splenomegaly. By percussion
confirmed hepatomegaly, intestinal sounds heard. Putting all these data together, it is case of
chronic hemolytic anemia most probably sickle cell anemia

244
 MPS
Today I examined……….., he is 5 years old, he is well, not communicating with me. He looks
disproporniately short and little bit overweight, his head looks large, I would like to measure
and plot. He has some sort of intellectual disability. He has some unusual features in form of
coarse features. Eye showed mild cloudiness, Back showed kyphoscoliosis. There is audible
snoring sound and hearing aids bilaterally. There is clubbing in hands and foot grade 3, there
is no pallor or jaundice, there is no stigmata of chronic liver disease. There are multiple
cannulation scars on both forearms. His pulse is 85 per minute. Abdomen is distended, RT lobe
is palpable 8 cm below RT SCM, LT lobe is palpable 4 cm below xiphisternum, spleen is
palpable 8 cm below LT SCM. By percussion confirmed HSM. Intestinal sounds heard. Putting
all these data together, it is a case of HSM, most probably MPS for DD
===================================================================
Examples of neuro cases
RT sided hemiplegia >> Task UL
Today I examined……….., he is 7 year. He looks well, well communicating with me. His WT and
HT is average for his age, I need to measure and plot on corresponding chart. He has some
intellectual disability. There are some cannulation scars. There is a wheelchair in the room.
There is no abnormal movements. No facial nerve affection on both sides. By doing
neurological examination, there is flexion deformity of RT UL and wasting of RT side
comparing to the left side. There are multiple scars especially in antecubital fossa may be
tendon release scars. The child has hypertonia and hyperreflexia on the RT side comparing to
the left side. The power in RT side is about 3, in LT side is normal muscle power. Intact
sensation in both sides. Also coordination affected on the RT side comparing to the left side.
Positive Babinski at RT LL. Putting all these data together, it is a acase of UMNL, RT sided
hemiplegia
DMD LL
o Waddling gait, positive Gower sign
o Calf muscle hypertrophy - Decreased muscle power bilaterally – Hypotonia – Hyporeflexia
, absent knee preserved ankle
o Case of LMNL, most probably DMD
Quadriplegia LL
 Bed ridden - Wheelchair
 No abnormal movements
 Bilateral muscle wasting, no scars
 Bilateral decrease in muscle power, 2/5
 Positive Babinski bilateral
 Intact sensation bilateral
 Affected coordination bilateral
 Exam of UL: hypertonia, hyperreflexia, decreased power bilateral
245
 Ataxia telangiectasia LL
o Small for gestational age regarding WT and HT
o Ataxic gait
o Romberg sign, cannot be conducted
o Bilateral eye telangiectasia
o Bilateral wasting of LL muscles
o Decreased power 3/5 – hypotonia – hyporeflexia bilateral
o Failure to do heel to knee test bilateral
o Intact sensation bilateral
o Coordination of UL affected bilateral
=========================================================================
Others
Turner
Today I examined…………, she is 14 years old. She is well, well communicating with me. By
putting her measures on appropriate growth chart her HT below 0.4 th centile, she is
proportionately short. She did not start her puberty yet. She has unusual features in the form
of lower hair line, low set ears and webbed neck. By general examination, she has short 4 th
and 5th metacarpal bones and cubits valgus. Pulse is weak with radio radial delay. There are
some café au lait patches, widely spaced nipples. Murmur heard on RT 2 nd ICS, increased by
leaning forward and by expiration. Putting all these data together, it is a case of turner
syndrome, I would like to complete my exam by full cardiac examination, BP measurement
and ask about school performance and neonatal feet edema
Prader willi syndrome
o Proportionate short stature, his HT below 0.4th centile
o Obese, his BMI >99TH centile
o Some intellectual disability
o Did not start puberty yet
o Unusual features, silky hair, almond shaped eye
o Short hand and feet
o gynecomastia
o Scoliosis
o It is a case of syndromic obesity, most probably prader willi syndrome, I need to ask
about infantile testis, hyperphagia and early life feeding problems

246