Pediatr Surg Int (1995) 10:400-403 © Springer-Verlag 1995 CASE REPORT Roy M. Kimble • Jane E. Harding • Anne Kolbe Jejuno-ileal atresia An inherited condition? Accepted: 3 May 1994 Abstract Two sisters with ileal atre- sia are described. Both had a type IIIa atresia successfully corrected and both are well on follow-up. Jejuno-ileal atresia in siblings is a rare event, and this is believed to be the first such report in the Southern hemisphere. Key words Intestinal atresia ' Apple-peel atresia • Autosomal recessive Introduction Since Goeller first described ileal atre- sia in 1684 [13], there have been ex- tensive case reports and research on the subject. Despite this, the aetiology is far from clear for the majority of cases. In 1900, Tandler hypothesised that intestinal atresia arose from a failure of the gut to recanalise after the solid-cord stage of intestinal devel- opment [32]. Although this is thought to be the aetiology of duodenal atresia, it is not believed to be the cause of most cases of jejuno-ileal atresia. Puri and Fujimoto [25] suggested that all cases of hereditary multiple intestinal atresias (type IV) and some cases of R. M. Kimble ( ~ ) • A. Kolbe Research Fellow in Paediatric Surgery, Department of Paediatric Surgery, The Starship, Auckland Hospital, Auckland, New Zealand J. E. Harding Department of Pediatrics, University of Auckland, Private Bag 92019, Auckland, New Zealand nonhereditary multiple intestinal atre- sias are due to a failure of the gut to recanalise. The classic experiments on pregnant dogs by Louw and Barnard in 1955 [20] initiated the theory still accepted today that the majority of intestinal atresias are caused by a late intrauterine mesenteric vascular cata- strophe, including volvulus, intussus- ception, internal hernia, and constric- tion of the mesentery in a tight gastro- schisis or omphalocoele. All these have been well described in clinical practice, but evidence for these me- chanisms is present at surgery in only 25% of cases [11]. In 1953 Lewis [19] reported ileal atresia in two identical twins. Since then there has been steady stream of reports of cases in siblings, suggesting that there may also be a genetic com- ponent to the condition. Case reports Two girls were the only children born to New Zealand parents of European descent. There was no known consanguinity. The first was born after a full-term, uneventful pregnancy. Antenatal ultrasound scans had been normal. Birth weight was 2.66 kg. Shortly after birth she was breast-fed and had a large bile-stained vomit. By 24 h she had abdominal distension and continued to spill bile-stained fluid. No meconium was passed. X-rays showed a small-bowel obstruction, and barium enema showed a microcolon. She was transferred to our centre and had a laparotomy on day 2 of life. Findings at operation were a distal ileal atresia with a large,~wedge-shaped defect in the mesentery (type IIIa). Resection of 14 cm dilated bowel proximal to the atresia and an end-to-side anastomosis left 85 cm small bowel and an ileo-caecal valve. She had a fairly uneventful recovery and required 16 days of parenteral nutrition before estab- lishing full enteral feeding. She is now a well 3-year-old girl but is a 'poor feeder' and remains below the 3rd centile for both height and weight. The second girl was born at term weighing 3.47 kg. The pregnancy was uncomplicated, and again the antenatal scans were normal. At birth the baby was noted to be tachypnoeic and had abdominal distension. She quickly developed bilious vomiting. X-rays showed distended loops of bowel. Contrast studies showed no malrotation, a microcolon, and a non-filling terminal ileum. A long piece of meconium was passed rectally at this time. The baby was operated upon on day 2 of life, and the findings were a proximal ileal atresia of type IIIa. Fifteen centimetres dilated prox- imal ileum was resected and an end-to-end anastomosis performed, leaving 197 cm small bowel and an ileo-caecal valve. She had an uneventful postoperative recovery requiring 14 days of intravenous nutrition before estab- lishing full enteral feeds. She is now thriving at age 6 months, with both height and weight on the 50th centile. The parents are concerned about the risk of bowel atresia in future children. A literature search was undertaken to identify previous reports of jejunal or ileal atresia in siblings, using both the Index Med- icus and Medline. The cases were grouped into 'conventional' atresia (types I to IIIa) (Table 1), and the rarer apple-peel type (type IIIb) (Table 2). Atresias were classified using Grosfeld's modification of Bland-Sutton's ori- ginal description [6, 16] (Table 3). Discussion Not including de Lorimier's cases but including our own, there are 41 re- ported cases of jejuno-ileal atresia from 18 families with more than one