leukodystrophies

Question 1

a 28 year old male patient presents with a rapidly progressive white matter syndrome manifesting with parieto-occipital involvement on imagjng. Clinically he has cognitive impairment with visual processing disturbance, as well as seizures and spastic paraparesis. What is the most likely diagnosis?

Answer 1

Adult onset adrenoleukodystrophy

Question 2

What is the inheritance pattern of adult onset adrenoleukodystrophy?

Answer 2

X Linked, so occurs in males only. Due to a mutation in ABCD1 gene

Question 3

in 90% of patients with neurogical symptoms in adrenoleukodystrophy, what else will you find?

Answer 3

Adrenal insufficiency