SNOMEDCT: 43752006;
Fried and Vure (1974) described an Ashkenazi family in which 3 of 4 children died with an almost identical syndrome. Within a week or so of birth, bloody diarrhea with swelling of the abdomen had its onset. All 3 died in a few weeks. Autopsy showed ulcerative colitis in two and pseudomembranous enterocolitis in the third. The parents were second cousins.
Megarbane and Sayad (2007) reported a consanguineous Lebanese family in which 3 of 4 sibs had severe early and lethal enterocolitis. The first infant, a girl, passed meconium 24 hours after birth but subsequently developed marked abdominal distention; intestinal biopsy showed diffuse necrosis and no aganglionosis. She died at 1 week of age with abdominal distention and cyanosis. The second infant, also a girl, passed meconium 12 hours after birth but developed abdominal distention, pallor, and hypotonia at 6 days. Alimentation was stopped, antibiotics were started, and she recovered within 2 days. She was readmitted at 22 days with metabolic acidosis, severe shock, cyanosis, and abdominal distention and died due to cardiovascular failure 12 hours later. The third sib was a boy who presented with severe vomiting, abdominal distention, and absence of meconium at 24 hours after birth. He improved when alimentation was stopped and passed meconium at day 5. He developed abdominal distention whenever alimentation was restarted, and was eventually treated with 1 month of parenteral feeding, after which alimentation was gradually reintroduced. Laboratory examination showed a decrease in the proliferation of cytotoxic T cells; brain MRI revealed absence of the corpus callosum. Two months later, he died suddenly, possibly from a urinary tract infection. Postmortem examinations were not permitted by the parents.
Fried, K., Vure, E. A lethal autosomal recessive entero-colitis of early infancy. Clin. Genet. 6: 195-196, 1974. [PubMed: 4426135] [Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00650.x]
Megarbane, A., Sayad, R. Early lethal autosomal recessive enterocolitis: report of a second family. (Letter) Clin. Genet. 71: 89-90, 2007. [PubMed: 17204052] [Full Text: https://doi.org/10.1111/j.1399-0004.2007.00735.x]