IMMUNE-DEFICIENCY IN FAMILIAL DUODENAL ATRESIA

The familial occurrence of duodenal atresia is uncommon. This study ev aluated the inheritance patterns, the nature and associations, and the presence of immunologic deficits in duodenal atresia recurring in at least three siblings each in two nonrelated families. In the first fam ily, an association with Fanconi's anemia was observed in three of sev en Pregnancies (2 boys, 1 girl) suggesting an autosomal recessive mode of transmission. Patients died as a result of overwhelming (fungal) s epticemia in association with pancytopenia. In a second family, identi cal multiple atresias occurred in two female siblings born 18 months a part and a third child with a duodenal stenosis, Overwhelming sepsis a nd a T-cell dysfunction was seen in the postoperative period, which Ra d partially corrected by follow-up at 5 months. A history of family oc currence of duodenal atresia should alert the physician to the possibi lity of associated pathology including immune deficiency states. Copyr ight (C) 1996 by W.B. Saunders Company