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

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. © 2010 by The Japanese Society for Pediatric Endocrinology.