Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis

Zammarchi E; Donati MA; Tucci F; Fonda C; Fanelli F; Pazzaglia R

Brain & Development

1994

Humans; Male; Acute Disease; infant; Q3 Literature Search; Tomography; Diagnosis; Differential; X-Ray Computed; Adrenoleukodystrophy/diagnosis/drug therapy/genetics; Encephalitis/diagnosis; Erucic Acids/therapeutic use; Fatty Acids/blood; Linkage (Genetics); X Chromosome

We report the case of a 6-year-old boy with X-linked adrenoleukodystrophy (ALD). In view of the acute onset of vomiting, fever, and coma, encephalitis was initially suspected. However, brain magnetic resonance imaging demonstrated a pattern of demyelination that was consistent with ALD; this diagnosis was confirmed by the finding of elevated plasma very long-chain fatty acids levels. At presentation, the patient was hyponatremic. That this metabolic disturbance and the coma resolved within hours of the initiation of corticosteroid therapy suggests that the presenting symptoms were secondary to adrenal cortical insufficiency. Primary adrenal failure was confirmed by endocrinologic evaluation. Thrombocytopenia, hepatic transaminase abnormalities, anemia and leukopenia developed during the subsequent course of therapy with oleic acid and erucic acid.

1994

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Journal Article

Backlog