Biochemistry

Question 1

Patient with recent diagnosis of ADHD develop GTC seizures and MRI shows symmetric periventricular demyelination in posterior regions of cerebral white matter

Answer 1

X-lined adrenoleukodystrophy: x-linked peroxisomal disorder with accumulation of VLCFA. Associated with adrenal insufficiency.

Question 2

Developmental delay, dysostosis multiplex, corneal clouding, hepatosplenomegaly, airway obstruction

Answer 2

Hurler syndrome (vs. Hunter - no corneal clouding) = mucopolysaccharidoses