title: Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Florence, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: F
authors.initials: F
authors.lastname: Tucci
authors.forename: C
authors.initials: C
authors.lastname: Fonda
authors.forename: F
authors.initials: F
authors.lastname: Fanelli
authors.forename: R
authors.initials: R
authors.lastname: Pazzaglia
mesh_terms: D000208:Acute Disease; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D003937:Diagnosis, Differential; D004660:Encephalitis / Q000175:diagnosis; D004883:Erucic Acids / Q000627:therapeutic use; D005227:Fatty Acids / Q000097:blood; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
chemical_list: D004883:Erucic Acids; D005227:Fatty Acids; C049811:erucic acid