Familial multiple intestinal atresia
Familial multiple intestinal atresia is an inherited disorder where atresia occurs at multiple locations throughout the small and large intestines. It presents at birth and the prognosis is very poor with almost all those diagnosed with this condition dying with one month. It may be associated with combined immunodeficiency.
History
This disorder was first described in 1971.[1]
Genetics
The underlying lesion in this condition appears to be a mutation in the TTC7A gene.[2] This gene is located on the short arm of chromosome 2 (2p16).
Clinical
In this disorder lesions can occur anywhere from the stomach to the anus. The clinical presentation depends on the location of the lesions(s).
References
- ^ Mishalany HG, Der Kaloustian VM (1971) Familial multiple-level intestinal atresia: report of two siblings. J Pediat 79: 124
- ^ Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue, M-A, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50: 324-329