Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination.
This is a preview of subscription content, log in to check access.
Conflicts of interest
Baglaj M, Carachi R, Lawther S (2008) Multiple atresia of the small intestine: a 20-year review. Eur J Pediatr Surg 18:13–18PubMedCrossRefGoogle Scholar
Ali YA, Rahman S, Bhat V et al (2011) Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA, and HMIA with immunodeficiency over the last 50 years. BMJ Case Rep. doi:10.1136/bcr.05.2010.30313Google Scholar
Gilroy RK, Coccia PF, Talmadge JE et al (2004) Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency. Blood 103:1171–1174PubMedCrossRefGoogle Scholar
Samuels ME, Majewski J, Alirezaie N et al (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet 50:324–329PubMedCentralPubMedCrossRefGoogle Scholar
Garel C, Dreux S, Philippe-Chomette P et al (2006) Contribution of fetal magnetic resonance imaging and amniotic fluid digestive enzyme assays to the evaluation of gastrointestinal tract anomalies. Ultrasound Obstet Gynecol 28:282–291PubMedCrossRefGoogle Scholar
Colombani M, Ferry M, Garel C et al (2010) Fetal gastrointestinal MRI: all that glitters in T1 is not necessarily colon. Pediatr Radiol 40:1215–1221PubMedCrossRefGoogle Scholar
Colombani M, Ferry M, Toga C et al (2010) Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea. Ultrasound Obstet Gynecol 35:560–565PubMedCrossRefGoogle Scholar