Diseases

Question 1

Progressive Supranuclear Palsy

Answer 1

Vertical gaze palsy
Subcortical dementia symptoms - slowness of mental processing, forgetfulness, impaired cognition, apathy, and depression
Unsteady gait and mild bradykinesia and rigidity of both upper limbs

Question 2

Meningitis

Answer 2

Kernig’s sign - Severe stiffness of the hamstrings causes an inability to straighten the leg when the hip is flexed to 90 degrees
Brudzinski sign - knee and hips flex on flexing of neck

Question 3

Parkinson’s Disease

Answer 3

Micrographia

Question 4

Parietal Lobe Infarct

Answer 4

Gerstmann’s Syndrome

Question 5

L’Hermittes sign

Answer 5

MS

Question 6

67yo woman with progressive dementia syndrome, on no psychotropics. Now displaying myoclonic jerks +/- depressive symptoms.

Answer 6

Variant CJD

Question 7

Disinhibition post stroke

Answer 7

Orbitofrontal lobe involvement - frontal lobe syndrome

Question 8

Shy Drager Syndrome

Answer 8

Shy Drager syndrome comes under Multi System Atrophy and is part of the Parkinson plus syndromes. Autonomic involvement, bladder involvement and features of Parkinsonism are clues.

Question 9

Hemiballismus

Answer 9

Hyperkinetic involuntary movement disorder characterized by intermittent, sudden, violent, involuntary, flinging, or ballistic high amplitude movements involving the ipsilateral arm and leg caused dysfunction in the central nervous system of the contralateral side.

Usually caused by lesion, usually infarct in or around contralateral subthalamic nucleus.

Question 10

Athetosis

Answer 10

Slow, writhing, and continuous worm-like movement of the limbs or trunk.
Due to basal ganglia involvement.

Question 11

Chorea

Answer 11

Ongoing random-appearing sequence of one or more discrete involuntary movements or movement fragments

Question 12

Hungtinton’s disease

Answer 12

Neurodegenerative disease, mostly inherited, that affects basal ganglia causing hyperkinetic movement disorder.
Earliest symptoms - mood symptoms.
As disease progresses, physical abilities worsen + chorea, and dementia can emerge.

Caused by too many trinucleotide CAG repeats in HTT gene resulting in mutation (mutant huntingtin gene)

Autosomal dominant inheritance, sex dependent.

Question 13

Anton Babinski Disease

Answer 13

Visual anosognosia, or denial of vision loss, associated with confabulation, or making up experiences to compensate for memory loss, in the setting of cortical blindness.

Question 14

20F presents with FEP as well as chest and abdominal pain and muscle weakness

Answer 14

Acute intermittent porphyria is a rare autosomal dominant disease characterized by a deficiency of hydroxymethylbilane synthase (HMBS). It presents with abdominal pain, nausea, vomiting, peripheral neuropathy, and seizures.

Question 15

70M presents with demented, dermatitis, glossitis and diarrhoea

Answer 15

Pellagra is a systemic disease caused by a severe deficiency of niacin (vitamin B3). It affects the whole body and can eventually lead to death. Primary pellagra is caused by a lack of niacin in your diet. It usually occurs in poor and food-limited populations.

Question 16

A 50yo refugee from Ethiopia presents with dementia, ataxia, psychosis and on examination, mild focal hemiparesis and abnormal pupils - what’s the most appropriate Ix?

Answer 16

Lumber puncture

Question 17

A 60yo woman with cognitive impairment following a R sided CVA, 6-month earlier presents with recurrent brief episodes of acute onset of visual and auditory hallucinations followed by loss of consciousness and urinary incontinence. What’s investigation to clarify dx?

Answer 17

MRI

Question 18

Delayed relation of tendon reflexes

Answer 18

Hypothyroidism

Question 19

Anton’s syndrome

Answer 19

This is a manifestation of bilateral occipital lobe damage in cortically blind patients. These patients lack insight into their disease and deny their blindness.

Question 20

Bilateral loss of vibration and position sense in legs

Answer 20

Tabes dorsaljtis due to involvement of dorsal columns
Neurosyphillis

Question 21

What is it called when there is a failure to recognise the whole of a complex picture while being able to identify individual parts

Answer 21

Simultagnosia
Occurs in Balint’s syndrome (oculomotor apraxia and optic ataxia) and involves lesions of the posterior occipitoparietal lobe

Question 22

72yo recovering from L sided hemiplegia following intracranial haemorrhage develops sudden aimless and vigorous swinging movements of trunk and left arm

Answer 22

Hemiballismus

Question 23

Older person with stepwise deterioration, fluctuating course, focal neurological signs including brisk reflex, spastic weakness limb and extensor plantar response.
Abrupt onset.

Answer 23

Multi infarct dementia

Question 24

Migraine and recurrent small subcritical infarcts, TIAs and affective disturbance

Answer 24

CADASIL
- mutation on chromosome 19 (NOTCH gene)

Question 25

Characteristics include ash leaf spots and epilepsy

Answer 25

Tuberous sclerosis - associated with hamartomas throughout body. This is an autosomal dominant multi system condition.

Question 26

Autosomal recessive disorder associated with psychosis and Parkinsonism features.

Answer 26

Wilson’s disease

Question 27

Condition associated with ID and social anxiety.

Answer 27

Fragile X syndrome

Question 28

Sign elicited in metabolic encephalitis

Answer 28

Asterixis

Question 29

Seen in severe myopathies when patient attempts to stand up from floor by climbing up their own legs to push themselves up.

Answer 29

Gower sign - seen in duchenne muscular dystrophy The child assumes the hands-and-knees position and then climbs to a stand by "walking" his hands progressively up his shins, knees, and thighs.

Question 30

Persistent blinking on repeated flagellation taps

Answer 30

Myerson sign

Question 31

Hypocalcimia - tapping of side of neck causes facial tetanic contractions

Answer 31

Chovodtek sign

Question 32

Paradoxical pupillary reflex

Answer 32

Marcus Gunn pupil

Question 33

Accomodation present but slow or absent light reflex. Once pupil constricted, it remains small for an abnormally long period of time, also has absent deep tendon jerks.

Answer 33

Holmes Adie Pupil - variant of normal.

Question 34

33f with psychiatric symptoms including visual and auditory hallucinations. Abdominal pain present. No prior psychosis.

Answer 34

Consider porphyria - autosomal dominant metabolic disease

Question 35

22yo untreated SCZ, neuroleptic naive presents with slow writing movements of neck

Answer 35

Normal psychopathology of schizophrenia

Question 36

35M chronic HTN with gradual memory decline. MRI with white matter demyelination in periventricular area.

Answer 36

Birwanger’s disease (subcritical leukoencephalopathy, a form of small matter vascular dementia)

Question 37

Inability to recognise, move or point on command to various parts of body.

Answer 37

Hemisomatognosia

Question 38

Patient recognises object but is unaware of use

Answer 38

Associative visual agnosia

Question 39

Failure to recognise object due to failure in perception

Answer 39

Apperceptive visual agnosia

Question 40

Object cannot be named by sight but readily by other means eg touch or hearing

Answer 40

Visual object agnosia