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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Waardenburg syndrome presenting with constipation since birth
R Gupta1, S B Sharma, P Mathur
1Departments of Pediatric Surgery, NIMS Medical College, and *SMS Medical College; Jaipur, Rajasthan, India. Correspondence to: Dr Rahul Gupta, 202 A, A3 block, Kamal Apartment- 2,Banipark, Jaipur, Rajasthan, India. meetsurgeon007@yahoo.co.in.
Background:
Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease.
Case Characteristics:
A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction.
Observation:
Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed.
Outcome:
Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis.
Message:
Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.
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