Authors : D. Suganya, R. Kannan, A. Priya, K. Arun Chander Yadav
DOI : 10.18231/j.ijpp.2021.041
Volume : 8
Issue : 3
Year : 2021
Page No : 235-237
Hirschsprung disease is a complex congenital condition of the intestine, usually recognized to be genetic origin and reverberates from a disturbance of the normal development of the enteric nervous system. It is evident to be the most common cause of a low intestinal obstruction in the neonates as well as the older children. Study reveals that occurrence rate of cases in 70% may be associated with other congenital abnormalities together with number of syndromic phenotypes. A number of distinct genetic sites have been identified in these syndromic phenotypes, identifying potential genetic predispositions. Presenting hereby a case of neonatal hirschsprung’s disease whereby the patient was surgically corrected along with stepwise pharmacological therapy and was able to get discharged with regular follow up advice.
Keywords: Hirschsprung disease, Intestinal obstruction, Phenotypes, Genetic predispositions