TITLE:
Diarrhea and Hypokalemic Rhabdomyolysis Due to Apoptotic Colitis as the Initial Manifestation of Common-Variable Immunodeficiency in an Adolescent
AUTHORS:
David Green, Nina Dave, Hua Liu, Charu Subramony, Michael J. Nowicki
KEYWORDS:
Apoptotic Colitis, Common-Variable Immune Deficiency, Hypokalemia, Rhabdomyolysis
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.4 No.2,
May
22,
2014
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.