Association of Hirschsprung disease with Waardenburg syndrome and role of gene studies: A review of 2 cases
Journal Title: Indian Journal of Child Health - Year 2018, Vol 5, Issue 3
Abstract
Background: Waardenburg-Shah syndrome type 4 is an association of Waardenburg syndrome with Hirsch sprung disease. Three disease-causing genes have been identified so far: Endothelin receptor type B encoding the endothelia-B receptor, EDN3 encoding an endothelia receptor ligand and Sry-like HMG bOX10 (SOX10) encoding the SOX10 transcription factor. Case Report: This is a review of 2 cases with variable onset of presentation and extent of aganglionic segment. Intervention/Outcome: In case 1, primary pull-through, as definitive surgical correction was done as a single procedure, whereas in case 2, required ileostomy with a plan of definitive surgery later on. Message: Mutation studies are helpful in characterization of the syndrome and counseling to the family. Furthermore, prognosis depends on the length of the ganglionic segment.
Authors and Affiliations
Niraj Kumar Dipak, Siddharth Parab, Amol Nage, Abnish Kumar
Keywords
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