Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

  • Hogan, Anthony R. (Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine) ;
  • Rao, Krishnamurti A. (Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine) ;
  • Thorson, Willa L. (Division of Clinical and Translational Genetics, Department of Human Genetics, University of Miami Miller School of Medicine) ;
  • Neville, Holly L. (Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine) ;
  • Sola, Juan E. (Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine) ;
  • Perez, Eduardo A. (Division of Pediatric Surgery, Department of Surgery, University of Miami Miller School of Medicine)
  • Received : 2018.07.27
  • Accepted : 2018.11.06
  • Published : 2019.09.15
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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.

Keywords

References

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