Sample Question Bank

A 29-year-old Cuban gentleman who is an office worker attends outpatient clinic with progressive walking difficulties over 8 years. 

On examination, he has a broad-based gait. Ocular movements reveal saccadic slowing with an increased latency and saccade dysmetria. Pursuit it broken and the vestibulo-ocular reflex is impaired bilaterally. There is no nystagmus and eye movements are full. Limb examination reveals a rest tremor, bradykinesia and limb ataxia. Plantar responses are extensor. 

An MRI scan is shown below. 

What is the likely cause?

Which of the following medications is a weak inhibitor of carbonic anhydrase?

A 74-year-old male presents to the emergency department with a 2-week history of episodic memory impairment and seizures. His past medical history includes alcohol excess and new depression. On arrival, you review his notes and discover the seizure semiology includes hemifacial movement and arm jerking. 

Examination is non-localising but his GCS is 12/15 (M5V4E3). His MRI is shown below. An EEG shows general slowing and CSF reveal a moderate lymphocytic pleocytosis. 

What is the likely cause for his presentation?

A 53-year-old gentleman presents to the Neurology Outpatient Department with a 2-year history of progressive lower limb weakness and sensory symptoms. He initially noticed difficulty running, stating his legs felt weak and unstable after exercise. He also describes intermittent back pain, radiating into his right buttock. His buttocks are numb, and he reports urinary urgency and hesitancy. 

At 18 years of age, he fractured two vertebrae playing rugby but did not require surgery. 

On examination there is evidence of bilateral lower limb weakness, MRC power grade 4/5 for hip flexion and knee flexion bilaterally. Upper limb strength is normal. There is widespread hyperreflexia in the upper and lower limbs, with bilateral ankle clonus. He has reduced distal vibration sense bilaterally in the lower limbs, with saddle anaesthesia to light touch and pain. 

MRI of his spine is shown below.

What is the next most appropriate investigation?

A 13-year-old male is seen in the epilepsy clinic following a bout of seizures, with additional myoclonus and hyperekplexia. He has a history of gradually progressive visual loss and his dilated fundoscopic examination is shown in the figure below. 

On examination, you note additional ataxia but there is no evidence of psychomotor or cognitive deterioration and there is no facial dysmorphia. Fundoscopic imaging is illustrated below.

Which of the following mutations are most likely?

A 69-year-old female presents with new left-eyelid drooping, dysphonia, unsteadiness, self-rotary vertigo, nausea and vomiting. Her past medical history includes hypertension, hyperlipidaemia, Arnold-Chiari decompression and breast cancer in remission, the latter treated with a wide local excision and adjuvant radiotherapy. 

On examination she has a left eyelid ptosis ~2mm with anisocoria and left eye miosis more marked in the dark. She also has ipsilateral ataxia, dysmetria and dysdiadochokinesia. There is additional diminished pain and temperature sensation over the left hemi-face and right limbs and trunk. 

What is the most likely diagnosis?