A Case of Adrenoleukodystrophy

Abstract

Adrenoleukodystrophy is a rare genetically determined disorder associated with progressive white matter degeneration of central nervous system. Although it is known to occur in most parts of the world it is seldom reported in Korea. We report a case of adrenoleukodystrophy in a 6 year old boy that was diagnosed by adrenal biopsy and demonstration of characteristic cryptalloid inclusions seen in adrenal cortical cells. This patient also had a widespread white matter lesion and brain atrophy that could clearly be demonstrated with Magnetic Resonance Image.