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Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent

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DOI: 10.4236/ojped.2014.42018    3,113 Downloads   4,048 Views   Citations

ABSTRACT

We present the case of an adolescent who presented with rhabdomyolysis due to severe hypokalemia arising from chronic diarrhea. Initial evaluation for celiac disease, known to present in this manner, was negative. Further evaluation with colonoscopy showed a normal appearing colon but biopsies showed a significant number of apoptotic cells in the mucosal crypts supporting a diagnosis of apoptotic colitis. Investigation into the cause of apoptotic colitis resulted in a diagnosis of common variable immune deficiency due to a defect in the inducible T-cell costimulator (ICOS) gene. Physicians should be aware of this uncommon condition and the importance of mucosal biopsy despite the presence of normal appearing mucosa.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Green, D. , Dave, N. , Liu, H. , Subramony, C. and Nowicki, M. (2014) Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent. Open Journal of Pediatrics, 4, 129-134. doi: 10.4236/ojped.2014.42018.

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