Mungan syndrome

Mungan syndrome^[1] is first described in 2003 by Mungan Z. et al.^[2] as an autosomal recessively inherited disorder in a Turkish family. It is characterized by mainly gastrointestinal hypomotilily related to visceral neuromyopathy which cause chronic intestinal pseudo-obstruction (CIIP). CIIP is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any mechanical obstruction. Family members of this syndrome had also mega duodenum, Barrett's esophagus, different cardiac abnormalities and some other organ involvement. In 2007^[3] Deglincerti A et al. studied genetic abnormalities in this family members and identified a new syndromic locus on chromosome 8q23-q24.

References

1. "Mungan Syndrome". National Center for Biotechnology Information. August 24, 2008.
2. "Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities". The American Journal of Gastroenterology. November 2003.
3. "A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24". European Journal of Human Genetics. May 9, 2007.