Coma as an acute presentation of adrenoleukodystrophy

X-linked adrenoleukodystrophy is a metabolic disorder with broad clinical v ariations. A 4-year-old male admitted to the hospital with fever, hypotensi on, and coma as the presenting signs of adrenoleukodystrophy is reported. T he initial presentation followed by rapidly developing disseminated intrava scular coagulopathy and multiorgan failure suggested an initial diagnosis o f septic shock. However, bronze skin pigmentation and a cranial computed to mography scan demonstrating posterior demyelination consistent with adrenol eukodystrophy led to the final diagnosis. The diagnosis was confirmed by th e findings of elevated very-long-chain fatty acid levels and an elevated C2 4/C16 ratio in plasma and fibroblast cultures. Atypical presentations of th e disease require a high index of suspicion to initiate treatment before th e appearance of irreversible sequelae, (C) 2000 by Elsevier Science Inc. Al l rights reserved.