Hereditary multiple intestinal atresia—ultrasound findings and outcome of pregnancy in an affected case

Abstract

A case of multiple intestinal atresia is described. Dilatation of the bowel was observed at 17 weeks' gestation during routine ultrasound scan of a healthy Caucasian primigravida from a non-consanguineous marriage. Amniocentesis was performed. The karyotype was normal male and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy and a simple bowel obstruction was suspected. The baby was delivered at 37 weeks' gestation in good condition. Initial clinical examination was normal but abdominal distension developed during the first day. At laparotomy, prepyloric septal atresia, a distal duodenal membrane, and multiple intestinal atresia were found. The baby died aged 4 days. Post-mortem examination of the abdomen confirmed the absence of lumen from long segments of the small intestine together with areas of colonic atresia. Histology and distribution were consistent with those reported in familial multiple intestinal atresia. The pitfalls in the interpretation of prenatal ultrasound scans and the possibility of prenatal diagnosis in future pregnancies are discussed.

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

“…The possibility of antenatal diagnosis by visualising dilatation of the fetal bowel at 17 weeks gestation during routine ultrasound scanning was first proposed by Boyd et al in 1994 19. Other studies have reported that antenatal diagnosis of multiple gastrointestinal atresias is possible by ultrasound examination from 21 weeks gestation onwards 12.…”

Hereditary multiple intestinal atresia: thirty years later

“…The mean survival time was 50 days. On the pathology report, the sievelike luminae appearance, previously described in the literature 3,7,[9][10][11]13,15,17,[19][20][21][22][24][25][26]29,30 was present in 10 of 15 patients (Fig 1). The other frequent abnormal findings were mucous membrane ulceration and granulation tissue, each found in 3 cases.…”

“…Although improvement has been made in the detection of bowel anomalies, it is currently impossible to differentiate with certainty HMIA from other kinds of atresia, even if the presence of bowel dilatation, calcifications, polyhydramnios, or cystic mass 19,21 should raise suspicions. A definitive prenatal diagnosis would allow for more appropriate counselling.…”

“…We were able to identify 43 other cases in the literature with this report being the largest series. 1,4,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] The pathogenesis of this disease remains speculative. Many hypotheses have been proposed.…”

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia

“…Hereditary multiple atresia syndrome [19][20][21][22][23][24][25][26][27][28]: This was first identified in a French-Canadian population in the Lake St. John region of Quebec and has since been also identified elsewhere. It is inherited in an autosomal recessive manner, and the atresias can occur anywhere along the length of the gastrointestinal tract, from the stomach to the rectum.…”