A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin
Krushank Nayak,
Kiran Khedkar,
Rajesh G Gattani
et al.
Abstract:Total colonic aganglionosis, also called total colonic Hirschsprung's disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung's disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-… Show more
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