Abstract

BACKGROUND: Waardenburg syndrome is an autosomal dominant disorder due to a congenital ectodermal germ layer defect. Shah Waardenburg syndrome (Type 4 Waardenburg syndrome) is an extremely rare variant with features of Waardenburg syndrome associated with aganglionic megacolon (Hirschsprung Disease). CASE REPORT: Here we present a case of a female baby at 45 hours of life with complaints of bilious vomiting, abdominal distension and failure to pass meconium since birth. Examination of the child revealed characteristic white forelock, dystopia canthorum, brilliant blue irises, flat nasal bridge and cheek angiomas suggestive of Waardenburg syndrome. Plain X-ray Babygram showed distended bowel loops and Barium follow-through showed aganglionic narrow segment of bowel and dilated bowel loops proximally. These features prompted a very rare diagnosis of Shah-Waardenburg Syndrome (SWS). The patient was taken up for Emergency Laparotomy. Appropriate genetic counseling was given to the parents.