Pediatr Gastroenterol Hepatol Nutr.  2019 Sep;22(5):487-492. 10.5223/pghn.2019.22.5.487.

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

• Hogan AR
• Rao KA
• Thorson WL
• Neville HL
• Sola JE
• Perez EA

• KMID: 2457751
• DOI: http://doi.org/10.5223/pghn.2019.22.5.487

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.

Keyword

Waardenburg syndrome; SOX10, Intestinal pseudo obstruction; Hirschsprung disease; Meconium ileus; Volvulus of midgut

MeSH Terms

Cystic Fibrosis
Deafness
Duodenum
Female
Fistula
Frameshift Mutation
Hirschsprung Disease
Humans
Ileus
Intestinal Pseudo-Obstruction*
Jejunum
Meconium
Necrosis
Parents
Waardenburg Syndrome*

Figure

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  Fig. 1 (A) Intraoperative view of the entero-enteric fistula (asterisk) from the second portion of duodenum (d) to the proximal end of the former closed loop mid-jejunal segment (j). (B) View of the completed serial transverse enteroplasty.

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