Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male

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 find...

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Autores principales: Schwab, Joel, Pena, Loren, Sigman, Laura, Waggoner, Darrel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687615/
https://www.ncbi.nlm.nih.gov/pubmed/23926373
http://dx.doi.org/10.1297/cpe.19.15
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author Schwab, Joel
Pena, Loren
Sigman, Laura
Waggoner, Darrel
author_facet Schwab, Joel
Pena, Loren
Sigman, Laura
Waggoner, Darrel
author_sort Schwab, Joel
collection PubMed
description 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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spelling pubmed-36876152013-08-07 Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male Schwab, Joel Pena, Loren Sigman, Laura Waggoner, Darrel Clin Pediatr Endocrinol Case Report 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. The Japanese Society for Pediatric Endocrinology 2010-03-11 2010-01 /pmc/articles/PMC3687615/ /pubmed/23926373 http://dx.doi.org/10.1297/cpe.19.15 Text en 2010©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.
spellingShingle Case Report
Schwab, Joel
Pena, Loren
Sigman, Laura
Waggoner, Darrel
Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title_full Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title_fullStr Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title_full_unstemmed Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title_short Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male
title_sort recurrent anion gap acidosis: an unusual presentation of x-linked adrenoleukodystrophy in a five-year-old male
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687615/
https://www.ncbi.nlm.nih.gov/pubmed/23926373
http://dx.doi.org/10.1297/cpe.19.15
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