Zuelzer-Wilson syndrome

Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic.

It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male predominance, Zuelzer-Wilson syndrome only has a slight male predominance (M:F of 1-1.5:1) 7.

The condition has been associated with other congenital syndromes, including congenital central hypoventilation syndrome (Ondine's curse) 6.

Similar to Hirschsprung disease, most patients present as neonates, or less commonly as infants 7. Very rarely do patients present beyond infancy.

The presentation can have either an acute or chronic course 7:

  • acute (generally neonates): features of bowel obstruction (e.g. abdominal distension, not passing meconium, etc.)
  • chronic (generally after the neonatal period): chronic constipation, failure to thrive

Zuelzer-Wilson syndrome is characterized by aganglionosis (absence of ganglion cells) throughout the entire colon 7. Additionally, variable amounts of the small intestine may also be involved 5.

Multiple procedures have been devised to treat the condition, including ileorectal anastomosis, ileum pouch anal anastomosis without a clearly superior method 4,8. If there is small bowel involvement, intestinal transplantation may be required 5.

Article information

rID: 8459
Section: Syndromes
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Jirásek-Zuelzer-Wilson syndrome
  • Total colonic aganglionosis

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