MRCP 1 Test
MRCP 1 Test
Answer: e) hereditary sensori motor neuropathy. In view of the family history, this
patient is most likely to have hereditary sensori motor neuropathy type I (Charcot
Marie Tooth disease). HMSN 1 is the most common form of hereditary neuropathy.
Severely and uniformly slowed nerve conduction velocities (NCVs) and primary
hypertrophic myelin pathology with prominent onion bulbs and secondary axonal
changes are the hallmarks of the disease. Motor symptoms predominate over
sensory symptoms. Often, patients report loss of balance, muscle weakness, and foot
deformities. Onset in the first decade of life is typical, but disease develops in some
patients in young or mid adulthood.
HMSN 2, on the other hand, represents the nondemyelinating neuronal type with
relatively normal NCVs and primary axonal pathology. Although nerves are not
enlarged in the neuronal form, weakness often is less marked and onset of this
neuropathy is delayed. Peripheral nerves are not enlarged clinically, and weakness of
feet and leg muscles predominates; hands are less severely affected than the legs.
Patients experience sensory loss in the distal extremities, and foot deformities (ie,
pes cavus) tend to be less marked than those of HMSN 1.
The answer is 4
Myasthenia gravis is well known to be
associated with other autoimmune
diseases such as pernicious anaemia,
thyroid disease and rheumatoid arthritis. In
Guillain-Barre syndrome you will expect
absent reflexes. Polymyositis does not
usually cause ptosis or ophthalmoplegia.
21 Hydroxylase deficiency
The answer is 3
This is Wallenberg's syndrome/ lateral
medullary syndrome and is due to
occlusion of the posterior inferior
cerebellar artery.
Gottron's papules
Comments: true 3.
This man has Paget's disease with high output
cardiac failure & sensorineural deafness.
Renal osteodystrophy leads to lesions of osteitis
fibrosa cystica admixed with osteomalacia,
which are focal in nature. Metastatic disease in
bone produces focal lesions.
Comments: true 3.
Degenerative osteoarthritis is a common & progressive
condition that becomes more frequent symptomatic
with aging. There is erosion & loss of articular
cartilage. Rheumatoid arthritis typically involves small
joints of the hands & feet, there is a destructive
pannus that leads to marked joint deformity. A gouty
arthritis is more likely to be accompanied by swelling,
deformity & joint destruction. The pain is related to
usage. Osteomyelitis represents an ongoing infection
that produces marked bone deformity, not just joint
narrowing. Lyme disease produces a chronic arthritis,
but it is typically preceded by a deer tick bite & a skin
lesion. It is much less common than osteoarthritis.
The answer is 2
The most likely diagnosis is Lambert-Eaton syndrome. It
results when IgG autoantibodies blockade the voltagegated calcium channels of peripheral cholinergic nerve
territory. 50% of the cases are associated with small cell
lung carcinoma. Proximal lower limb weakness is the
most consistent neurological feature. Ptosis and
ophthalmoplegia are rare. Autonomic dysfunction is
common (e.g. dry mouth). The reflexes are depressed or
absent but normalise with repetitive muscle contraction.
A 42-year-old man reviewed in outpatients has a 6month history of increasing shortness of breath on
exertion and feelings of lightheadedness when
digging in his garden. His general practitioner
organised an open access echocardiogram which
showed a septal thickness of 26mm and a left
ventricular outflow gradient of 85mmHg. Which of
the following is NOT a risk factor for sudden death
in patients with hypertrophic cardiomyopathy?
A : Unexplained syncope
B : Sudden death from HOCM in 2 or more first
degree relatives <40years of age
C : Family history of sudden death
D : left ventricular wall thickness of >30mm
E : Hypertension.
The answer is 5
GBS is a post-infectious acute polyneuritis typified
by elevated CSF protein with few cells and often
normal glucose. There is a profound weakness
associated with areflexia and peripheral sensory
neuropathy. Ophthalmoplegia is associated in
particular with the Miller-Fisher variant. However,
a sensory level is NOT a feature and would
suggest cervical myelopathy. Muscle wasting is
typical with prolonged illness. Autonomic disease
may also feature.
The answer is 2
Fluctuating level of consiousness can occur
in both meningitis and subarachnoid
haemorrhage (SAH). Hypertension is a
risk factor for SAH, but not diabetes.
Opiate abuse does not increase the risk
for SAH. Cerebral aneurysm are
associated with polystic kidney disease.
The answer is 2
The presence of a sensory loss at T10
indicates a thoracic mylopathy. Subacute
combined degeneration of the cord is
unlikely as Hb and MCV are normal.
Anterior spinal artery occlusion is unlikely
as the history is progessive.
The answer is 4
The presentation of myopathy is
characterised by priximal weakness with
normal reflexes and sensation and the
absence of fasciculations. Polymyositis is
the commonest cause of inflammatory
muscle disease in < 50 years old
(inclusion body myositis is the commonest
in >50 years old).
Which of the following is the most likely explanation of this boy's presentation?
Coeliac disease.
Primary hypoadrenalism .
Pseudohypoparathyroidism.
Renal osteodystrophy.
Vitamin D resistant osteomalacia.
Comments: true 1.
The features of shoulder pain associated with a
past history of carpal tunnel syndrome in a
patient receiving haemodialysis suggests a
diagnosis of b2 microglobulin amyloidosis.
Amyloid deposits composed of b2-microglobulin
as a major constituent protein are mainly
localized in joints with periarticular bone that
lead to destructive arthropathy which tends to
develop 5- 10 years after the initiation of
dialysis. Death from amyloidosis of gut & heart
may occur after 20 years of dialysis.
A 16 year old girl presented with a three week history of headache and
horizontal diplopia on far right lateral gaze. On two separate
occasions she noted dimmed vision whilst bending forwards. Over
the last year she had gained 12 kilograms in weight. On
examination, her weight was 95 kg, and height 162cms.
Neurological examination revealed bilateral papilloedema and a
partial right sixth cranial nerve palsy. What is the most likely
diagnosis?
1) Benign intracranial hypertension.
2) Multiple sclerosis.
3) Pituitary tumour
4) Superior sagittal vein thrombosis.
5) Thyroid eye disease.
The answer is 1
This patient is markedly obese with a BMI of 36 and the
history suggestive of BIH. Vision may be affected with
enlargement of the blind spot and the visual obscuration
with movements that provoke a rise in ICP (eg bending)
is typical of BIH. Dysthyroid eye disease would not
present like this and is more commonly associated with
Hyperthyroidism. The papilloedema would argue against
MS. A bitemporal hemianopia or a visual field defect
would be expected with a pituitary tumour. Venous sinus
thrombosis is a possibility but would be expected to
produce deteriorating symptoms.
The answer is 4
Herpes simplex encephalitis (HSE) is associated
with high signal in one or both temporal lobes
(limbic encephalitis). Seizures are commonly
present in HSE. Herpes Simplex Virus type 1 is
the causative virus (Not type 2 which is
associated with genital herpes). PCR for herpes
simplex virus on CSF is highly specific test.
The answer is 4
There is an increased risk of neural tube defects
associated with anti-convulsants during
pregnancy. However, the risks associated with
treatment are outweighed by the benefits in
preventing seizures, so the drug should be
continued. The risks may be minimised through
use of folate supplements. Sodium valproate is
not an enzyme inducer and would not speed up
metabolism of the pill.
The answer is 2
Pseudotumour cerebri is a clinical syndrome that mimics brain tumours, and is characterised by
raised intracranial pressure with normal CSF cell count and protein content, normal ventricular
size, anatomy and position. Causes:
Metabolic disorders: galactosaemia, hypoparathyroidism, pseudohyperparathyroidism,
hypophosphatasia, steroid therapy, hypervitaminosis A, vitamin A deficiency, Addison's Disease,
obesity, menarche, oral contraceptives, pregnancy.
Infections: Roseola infantum, chronic otitis media, mastoiditis, Guillain Barr Syndrome. Drugs:
Nalidixic acid, tetracycline.
Haematological disorders: Polycythemia, haemolytic and iron deficiency anaemia, Wiskott Aldrich
Syndrome.
Destruction of intracranial drainage by venous thrombosis: Lateral sinus or posterior saggital sinus
thrombosis, head injury, obstruction of the superior vena cava. It usually presents with headache
and vomiting, though this is rarely as bad as that associated with posterior fossa tumour.
Diplopia is common due to 6th nerve palsy. Children are alert with no systemic upset. A bulging
fontanelle, cracked pot sounds, or separation of the cranial sutures may be present.
Papilloedema with an enlarged blind spot is the most consistent sign beyond infancy. Focal and
neurological signs indicate a process other than pseudotumour cerebri. It may be complicated by
optic atrophy and blindness. Most can be treated conservatively with monitoring of visual acuity.
For others, multiple lumbar punctures may be necessary to reduce intracranial pressure. Very
rarely are shunts required.
The answer is 1
Myasthenia gravis is commoner in females (it is an
autoimmune disease). The commonest features
include ptosis, diplopia and ophthalmoplegia. It
is a neuromuscular disorder and therefore does
not cause any lower motor neuron signs such as
fasciculations, wasting, and loss of reflexes.
Pupils are always normal. Lid lag is a feature of
thyroid eye disease.
The answer is 2
Optic neuropathy causes a central scotoma,
an optic tract lesion an incongruous
homonymous hemianopia, a chiasmal
lesion a bitemporal hemianopia, an optic
radiation and occipital lobe lesion a
congruous homonymous hemianopia.
The answer is 3
The most likely diagnosis is Miller Fisher syndrome (variant of Guillain Barre
syndrome). It consists of complete or partial ophthalmoplegia, areflexia and
ataxia. It usually follows antecedent infections. Serum IgG antibody to the
ganglioside GQib is present in more than 95% of patients. It is highly specific
for the syndrome.
Elevated levels of antibodies to the glycolipid ganglioside-monosialic acid (GM1
antibodies) have been shown, in some instances, to be associated with
certain neurological disorders: lower motor neuron syndromes, amyotrophic
lateral sclerosis, multiple sclerosis, other multifocal neuropathies, and
systemic lupus erythematosus (SLE) with central nervous system
involvement.
Neuronal Nuclear (Hu) Antibodies (NNA) are found in a number of
paraneoplastic syndromes, including subacute sensory neuronopathy,
paraneoplastic encephalomyelitis and paraneoplastic cerebellar
degeneration and are associated with small cell lung carcinoma.
Purkinje cell cytoplasmic antibodies are useful for identifying individuals with
subacute cerebellar degeneration or peripheral neuropathy due to a remote
(autoimmune) effect of gynecologic or breast carcinoma.
The answer is 5
Neuroleptic malignant syndrome is the most likely
diagnosis. Its major features are: rigidity, altered
mental state, autonomic dysfunction, fever, and
high creatinine kinase. It is usually caused by
potent neuroleptics. The treatment of choice is
dantrolene and bromocriptine. Withdrawal of
neuroleptic treatment is mandatory.
Rhabdomyolysis and acute renal failure are
potential complications.
Comments: true 3.
This woman has osteoarthritis (OA) of both knees. The
principle goal of systemic therapy is to provide an
effective pain relief with the least associated toxicity.
Paracetamol is the initial therapy recommended for the
treatment of OA of the hip & knee. Studies have shown
that short-term & long-term efficacy of paracetamol is
comparable to that of ibuprofen & naproxen in people
with knee osteoarthritis. Specific COX-2 inhibitors such
as celecoxib have clinical benefit similar to that of
traditional NSAIDS, but less GI toxicity although issues
remain regarding their cardiovascualr risk. They may be
used in patients with GI intolerance of traditional
NSAIDs.
The answer is 4
Phenytoin is well known to cause
neurological side effects such as
peripheral sensory neuropathy and
cerebellar ataxia. Other side effects
include gingival hypertrophy,
lymphadenopathy hypocalcaemia,
hirsutism.
The answer is 3
There are signs of lower (wasting, fasciculations)
and upper (brisk reflexes, extensor plantar
response) motor neuron involvement in the
presence of normal sensation. Motor neuron
disease is the commonest cause of such
presentation. Alcoholic myopathy and diabetic
amyotrophy do not share upper motor neuron
signs. Syringomyelia presents with sensory
symptoms and signs (spinothalamic). You expect
sensory involvement with cervical cord
compression.
The answer is 2
The patient and fetus are at far more risk from uncontrolled seizures
than from any potential teratogenic effect of the therapy. In
pregnancy total plasma concentrations of anticonvulsants fall and so
the dose may need to be increased. The potential teratogenic
effects (particularly neural tube defects) of carbamazepine do need
to be explained and in an effort to reduce this risk she should
receive folate supplements. Screening with AFP and second
trimester ultrasound are required. Vitamin K should be given to the
mother prior to delivery. There is no point in switching therapies as
this could precipitate seizures in an otherwise stable patient.
Similarly, both phenytoin and valproate are again associated with
teratogenic effects.
The answer is 5
MRI brain typically shows bilateral posterior
thalamic high signal abnormalities in
patient with new variant CJD. EEG , CSF
analysis only shows non-specific changes.
EMG and CT brain are normal. Sporadic
CJD (and not new variant CJD) is
associated with specific EEG changes.
The answer is 1
Vigabatrin is associated with constricted
visual fields and when detected therapy
should be stopped.
Insulinoma
A young woman has acne and is taking oral medication. She develops
polyarthritis and raised liver enzyme tests. Investigations show
AST 95
ALT 170
bilirubin 16
antinuclear antibodies strongly positive at 1/640, Which of the
following drugs is she most likely to have been prescribed?
1) erythromycin
2) isotretinoin
3) minocycline
4) oxytetracycline
5) trimethoprim
The answer is 3
Except trimethoprim all other drugs are used
in the treatment of acne. And all of these
can cause hepatotoxicity. Erythromycin
usually causes cholestasis. Minocycline
can cause drug induced SLE.
The answer is 2
Alzheimer's disease is characterised early in the
disease by short term memory loss. The other
features listed here would suggest an alternative
diagnosis such as normal pressure
hydrocephalus (gait ataxia and urinary
incontinence), Creutzfeld-Jacob disease
(myoclonic jerks) and delirium or vascular
dementia (visual hallucinations).
The answer is 2
In the pre-antibiotic era an abducens nerve palsy with
ipsilateral pain and numbness was due to petrous
osteitis (Gradenigo syndrome) but is now more likely the
result of a meningioma or nasopharyngeal carcinoma of
the petrous apex. The cavernous sinus syndrome
consists of variable involvement of: oculomotor,
trochlear, abducens, trigeminal (ophthalmic and maxillary
division) and oculo-sympathetic nerves. The superior
orbital fissure syndrome is similar to the cavernous sinus
syndrome except for the presence of proptosis.
Comments: 3 )Echocardiography
patients with reduced LV function or
asymptomatic VT may benefit from
implantation of an implantable cardiac
defibrillator . You need to know the
patients cardiac function, so we feel that
an ECHO would be the next appropriate
study in this patient, followed by coronary
angiography & inpatient cardiology
referral.
Comments:
true 4. In the circumstances of infection, one should
consider temporarily stopping methotrexate as it is an
immunosuppressant. Any infection should be treated as
usual to response to treatment monitored. Once the
infection is successfully treated methotrexate can be
reinstated. However, if the patient has recurrent serious
infections while taking methotrexate, its continued long
term use should be discussed with the patient's
rheumatologist. *some local variations may exist
regarding dose & frequency of folate therapy.
Slide no 6
A 55 year old patient presented with breathlessness and ankle oedema. The
blood pressure is 135/80 mmHg. On examination, her JVP rises with
inspiration. She has a soft systolic murmur and a third heart sound.
Blood tests reveal
Hb 10.5 g/dl
WCC 7.5 x 10^9/l
Platelets 150x 10^9/l
sodium 136 mmol/l
potassium 3.5 mmol/l
creatinine 140 mol/l
urea 6 mol/l
ECG shows poor R wave progression. An echocardiogram shows no
pericardial effusion, the ventricles are stiff and systolic function is mildly
impaired.
Which of the following is the likely diagnosis?
A.Restrictive cardiomyopathy
B. Dilated cardiomyopathy
C. Constrictive pericarditis
D. Ischaemic cardiomyopathy
E. Pulmonary embolus
Correct answer 2
The answer is 3
Diffuse lewy body disease presents with cognitive
impairment, visual hallucinations, intermittent
confusion, parkinsonism, myoclonus and marked
sensitivity to neuroleptic treatment. Visual
hallucinations in parkinson's disease treated with
L-dopa usually appear late (>2 years after
initiation of treatment). Visual hallucinations are
not features of multiple system atrophy or
progressive supranuclear palsy.
The answer is 3
Acid maltase deficiency typically presents with insidious
onset of proximal myopathy and early respiratory muscle
weakness. Respiratory failure in inflammatory
myopathies (polymyositis, dermatomyositis, inclusion
body myositis) and limb girdle muscular dystrophy is
rare. Muscle biopsy shows vacuolation in muscle fibres.
Miller-Fisher Syndrome, a variant of GBS, is
characterised by ophthalmoplegia, ataxia and areflexia.
Lambert-Eaton Myasthenic Syndrome, often a
paraneoplastic phenomenon, is associated with
hyporeflexia which returns after exercise, autonomic
symptoms and fatiguability.
The answer is 5
Gabapentin does not induce cytochrome P450
unlike other anticonvulsants such as phenytoin
and phenobarbitone. Vigabatrin may cause
visual field defects, which may be irreversible.
Rarely have visual disturbances been
associated with gabapentin. No use in Petit Mal
and is used for add-on therapy in partial or
generalised seizures.
The answer is 3
GB is a post-infectious polyneuropathy causing demyelination in mainly motor
but also sensory nerves. It usually follows a non-specific viral infection.
Campylobacter and mycoplasma are recognised causes. Weakness begins
in the legs and progressively ascends to involve the trunk, upper limbs and
finally the bulbar muscles (Landry's ascending paralysis). Asymmetry is
present in only 9% of patients, with symmetrical involvement being typical.
Usually there is painless progression over days or weeks, but in cases of
abrupt onset, there may be tenderness or muscle pain. Bulbar involvement
occurs in 50%, with a risk of aspiration and respiratory insufficiency can be
problematic. In the Miller Fisher Syndrome there is external
ophthalmoplegia, ataxia and areflexia. In 20% of cases there is urinary
incontinence of retention. Clinical symptoms usually improve within 2-3
weeks, though a chronic relapsing form is recognised. CSF protein is
elevated to more than twice the upper limit of normal, with normal glucose
and no pleocytosis. Bacterial cultures are negative and viral cultures rarely
isolate anything. The dissociation between a high CSF protein and a lack of
cellular response in a person with an acute or subacute polyneuropathy is
diagnostic of Guillain Barr Syndrome
The answer is 4
Normal pressure hydrocephalus characterized by
abnormal gait, urinary incontinence, and
dementia. It is an important clinical diagnosis,
because it is a potentially reversible cause of
dementia. It is important to distinguish it from
Parkinson's Disease. The onset of gait
disturbance and urinary symptoms is unusual so
early in dementia. Frontal lobe dementia is
characterised by loss of 'executive' functions and
multi-infarct state usually has a step-wise
history.
Coarctation of Aorta
Hypertrophic osteoarthropathy
The answer is 3
This is a bit early for alcohol withdrawal
particularly as the patient is admitted
smelling of alcohol. The most likely
diagnosis is hypoglycaemia. We do not
have any clinical findings to suggest any
of the other alternativies.
Periarticular Erosions
The answer is 3
The differential diagnosis of demyelinating
neuropathy includes: hereditary motor-sensory
neuropathy (Charcot-Marie Tooth disease),
Refsum's Disease, Guillain-Barre syndrome,
chronic inflammatory demyelinating
polyneuropathy (CIDP), paraprotein-related
disorder, leukodystrophies. Amiodarone,
Diabetes, alcohol, Vitamin deficiencies and renal
failure cause an axonal polyneuropathy.
The answer is 2
This is quite a grey question. The clinical scenario is very
brief with no mention of any neurological signs so a
logical deduction must be made.
Alzheimer's disease would be expected to have a
continous impairment of consciousness in its advanced
stages but could be episodic if there were variation in
drugs therapy or concurrent illnesses. Similarly Normal
Pressure Hydrocephalus, Creutzfeld-Jacob and
depression would present with dementia (or apparent
dementia) but not fluctuant.
Of all those listed subdural haematoma is classically
associated with fluctuating level of consciousness. This
would make it the most likely.
The answer is 5
Lesions of the frontal lobe include difficulties with task sequencing and
executive skills. Expressive aphasia (receptive aphasias a temporal lobe
lesion), primitive reflexes, perseveration (repeatedly asking the same
question or performing the same task), anosmia and changes in personality.
Lesions of the parietal lobe include apraxias, neglect, astereognosis (unable
to recognise an object by feeling it) and visual field defects (typically
homonymous inferior quadrantanopia). They may also cause alcalculia
(inability to perform mental arithmetic). Lesions of the temporal lobe cause
visual field defects (typically homonymous superior quadrantanopia),
Wernike's (receptive) aphasia, auditory agnosia, and memory impairment.
Occipital lobe lesions include cortical blindness (blindness due to damage to
the visual cortex and may present as Anton syndrome where there is
blindness but the patient is unaware or denies blindness), homonymous
hemianopia, and visual agnosia (seeing but not percieving objects - it is
different to neglect since in agnosia the objects are seen and followed but
cannot be named).
The answer is 4
Normal pressure hydrocephalus characterized by
abnormal gait, urinary incontinence, and
dementia. It is an important clinical diagnosis,
because it is a potentially reversible cause of
dementia. It is important to distinguish it from
Parkinson's Disease. The onset of gait
disturbance and urinary symptoms is unusual so
early in dementia. Frontal lobe dementia is
characterised by loss of 'executive' functions and
multi-infarct state usually has a step-wise
history.
Normal hand
Explanation