Adrenoleukodystrophy 1례

We describe a 9-year-old boy who showed typical neurologic manifestations i.e., progressive behavioral changes, intellectual impairment, visual disturbances and hearing loss, cerebellar and pyramidal signs with characteristic neuroimaging features, which led us to make a clinical deagnosis of ALD. It was confirmed later by demonstration of increased VLCFA levels in RBC membrane using HPLC. He has no family history of neurologic or endocrine disorder. Prophylactic antiepileptic medicaion could not prevent the development of seizure disorder