This child has some sort of leukodystrophy, as evidenced by widespread white matter disease on MRI. Without having reviewed biochem recently, one can educated guess this question by recalling that fatty acids like to accumulate in white matter; white matter and peripheral nerve conduction will be messed up. Accumulation of VLCFAs specifically refers to adrenoleukodystrophy. Other diseases include metachromatic leukodystrophy, refsum, zellweger.
Abnormally decreased serum cholesterol and Acanthocytes = Abetalipoproteinemia (causes ADEK deficiency)
VitE deficiency damages spinocerebellar tract, dorsal columns, and peripheral nerves (same as Friederich Ataxia)
submitted by โjlbae(159)
I didn't think it could get any more low yield after that Pompe dz question... I was wrong