Introduction and importance: Waardenburg-Shah disorder could be an uncommon autosomal recessive inherited ailment characterized by aganglionic megacolon with a high mortality rate. Babies born with Waardenburg syndrome may have typical features of hair, skin and eye pigmentary abnormalities, and hearing loss. Here we present a case with typical presentation of Waardenburg Shah syndrome.
Case presentation: This is a case of neonatal intestinal obstruction caused by a rare syndrome known as Waardenburg-Shah syndrome, with clinical manifestations of abdominal distension, bilious vomiting, and a history of delayed meconium passage with a family history of variant forms of this syndrome. The patients underwent first laparotomy, which found no atresia.post op colongarphy revealed a narrowed colon. Then reoperated, and a biopsy was taken and opened ileostomy. The pathology result showed gangilion negative. The patient was lost due to uncontrollable sepsis at the age of 2 months.
Clinical discussion: Waardenurg syndrome is a congenital audito-pigmentary syndrome first described in 1951.Waardenurg syndrome is classified into four types, WS1 to WS4, and they share the common presence of congenital sensoneural hearing loss and pigmentary defects. The diagnosis of WS has major and minor criteria. The definitive management of this disorder involves surgical removal of aganglionic segment of the bowel and connecting functioning gangilioic bowel to the anus.
Conclusion: Shah-Waardenburg syndrome TYPE-4 is a relatively unusual syndrome characterized by a higher prevalence of whole colonic aganglionosis with or without small bowel involvement, resulting in substantial morbidity and mortality in the neonatal age range.
Keywords: Hirschsprung disease; Intestinal agangliosis; Waardendenburg-Shah syndrome; Waardendenburg-Shah syndrome type 4.
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