Neuro: spot diagnosis

Question 1

50 year old male shows frontal balding, bilateral ptosis and wasting of the facial muscles with minimal facial expression and drooping mouth.
There is a delay in releasing the hand grip after shaking hands, muscle wasting and weakness of the limbs with reduced or absent reflexes. Mild cognitive impairment.

a) What is the most likely diagnosis?
b) What finding may you elicit on examination?
c) What other complications are common in this disease? - hence what monitoring should be done?

Answer 1

a) Myotonic dystrophy
b) Percussion myotonia (especially on the thenar eminence)
c) Cataracts, cardiomyopathy (yearly EGC monitoring is suggested)

Question 2

46 year old patient presents with a brown pigmented ring at the corneal limbus (Descemet’s membrane of the cornea) on eye examination.

a) What is this sign called? (disease causing it…?)
b) What other features might be present
c) Inheritance of this disease
d) Test to confirm diagnosis
e) Management

Answer 2

a) Kayser-Fleischer ring: seen in Wilson’s disease.

b) - Neurological features: tremor, chorea, extrapyramidal signs (expressionless face, rigidity, bradykinesia))
- Signs of liver disease: jaundice, hepatomegaly +/- signs of liver failure.
- Mood and personality changes (psychiatric manifestations).

c) autosomal recessive
d) Low ceruloplasmin

e) - Avoidance of alcohol, hepatotoxic drugs and copper-rich foods (e.g. liver, chocolate, nuts, mushroom)
- Monitoring of renal and hepatic function
- Use of chelating agents (e.g. penicillamine)