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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.
Keywords
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Reference
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Article info
Publication history
Accepted:
January 15,
1994
Received:
October 4,
1993
Identification
Copyright
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.
