Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
10.5223/pghn.2019.22.5.487
- Author:
Anthony R HOGAN
1
;
Krishnamurti A RAO
;
Willa L THORSON
;
Holly L NEVILLE
;
Juan E SOLA
;
Eduardo A PEREZ
Author Information
1. Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine, Miami, FL, United States. ahogan@med.miami.edu
- Publication Type:Case Report
- Keywords:
Waardenburg syndrome;
SOX10, Intestinal pseudo obstruction;
Hirschsprung disease;
Meconium ileus;
Volvulus of midgut
- MeSH:
Cystic Fibrosis;
Deafness;
Duodenum;
Female;
Fistula;
Frameshift Mutation;
Hirschsprung Disease;
Humans;
Ileus;
Intestinal Pseudo-Obstruction;
Jejunum;
Meconium;
Necrosis;
Parents;
Waardenburg Syndrome
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2019;22(5):487-492
- CountryRepublic of Korea
- Language:English
-
Abstract:
Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.
