Three Cases of Adrenoleukodystrophy

ABSTRACT

Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed by increased plasma content of very long chain fatty acid(VLCFA). The clinical symptoms include seizure, visual impairment, and hemiparesis. Two cases showed typical radiological findings and sural nerve biopsy was performed in one.