Coma as an acute presentation of adrenoleukodystrophy.
X-linked adrenoleukodystrophy is a metabolic disorder with broad clinical variations. A 4-year-old male admitted to the hospital with fever, hypotension, and coma as the presenting signs of adrenoleukodystrophy is reported. The initial presentation followed by rapidly developing disseminated intravascular coagulopathy and multiorgan failure suggested an initial diagnosis of septic shock. However, bronze skin pigmentation and a cranial computed tomography scan demonstrating posterior demyelination consistent with adrenoleukodystrophy led to the final diagnosis. The diagnosis was confirmed by the findings of elevated very-long-chain fatty acid levels and an elevated C24/C16 ratio in plasma and fibroblast cultures. Atypical presentations of the disease require a high index of suspicion to initiate treatment before the appearance of irreversible sequelae.
Ravid
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S
Division of Pediatric Neurology, Schneider Children's Hospital, New Hyde Park, New York, USA.
Diamond
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AS
Eviatar
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L
D000208:Acute Disease; D000326:Adrenoleukodystrophy / Q000097:blood / Q000150:complications* / Q000175:diagnosis*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology*; D002675:Child, Preschool; D003128:Coma / Q000209:etiology*; D003937:Diagnosis, Differential; D004211:Disseminated Intravascular Coagulation / Q000209:etiology; D005227:Fatty Acids / Q000097:blood; D005334:Fever / Q000209:etiology; D006801:Humans; D007022:Hypotension / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009102:Multiple Organ Failure / Q000209:etiology; D010859:Pigmentation Disorders; D012772:Shock, Septic / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
D005227:Fatty Acids