Recurrent anion gap acidosis: An unusual presentation of x-linked adrenoleukodystrophy in a five-year-old male

Joel Schwab; Loren Pena; Laura Sigman; Darrel Waggoner

doi:10.1297/cpe.19.15

Recurrent anion gap acidosis: An unusual presentation of x-linked adrenoleukodystrophy in a five-year-old male

Joel Schwab, Loren Pena, Laura Sigman, Darrel Waggoner

Research output: Contribution to journal › Article › peer-review

Abstract

We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of recurrent anion gap acidosis does not uncover an etiology, X-linked ALD should be considered in the differential diagnosis.

Original language	English (US)
Pages (from-to)	15-18
Number of pages	4
Journal	Clinical Pediatric Endocrinology
Volume	19
Issue number	1
DOIs	https://doi.org/10.1297/cpe.19.15
State	Published - Jan 2010
Externally published	Yes

Keywords

Adrenoleukodystrophy
Anion gap metabolic acidosis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

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AB - We are presenting a five-year-old male with recurrent anion gap acidosis. During his last admission, it was detected that he had elevated VLCFA and the evaluation discovered that he had X-linked Adrenooleukodystrophy. He had the Addisonian only phenotype without any clinical or radiographic CNS findings. We were unable to find any other reports of this presentation of ALD. If the work-up of recurrent anion gap acidosis does not uncover an etiology, X-linked ALD should be considered in the differential diagnosis.

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Recurrent anion gap acidosis: An unusual presentation of x-linked adrenoleukodystrophy in a five-year-old male

Abstract

Keywords

ASJC Scopus subject areas

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