Open Journal of Pediatrics
Volume 4, Issue 2 (June 2014)
ISSN Print: 2160-8741 ISSN Online: 2160-8776
Google-based Impact Factor: 0.45 Citations
Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent ()
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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.
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