Pyloric atresia associated with multiple intestinal atresias and immune difficiency

Abstract

A ROUTINE prenatal ultrasound scan on a first pregnancy in parents with history of consanguinity (first cousins) performed at 19 weeks of gestation showed a cystic mass in the upper abdomen, separate from the stomach. There was a question of distended bowel loops and possibly a “double bubble” (Fig 1). Amniotic fluid analysis showed the fetus to be a boy with normal chromosomes. Amniotic fluid was normal in amount until 34 weeks of gestation when polyhydramnios was noted. At this time echogenic bowel wall was noted on fetal ultrasound scan. The baby was born at 38 weeks' gestation after an uncomplicated vaginal delivery. Upper abdominal distension was noted, and an abdominal radiograph (Fig 2) showed gastric distension with a gasless abdomen and calcifications in the intestinal loops resembling a “contrast study.” Fig. 2Plain abdominal radiograph at birth. Distended stomach, gasless abdomen, and pathognomonic calcifications of the small intestine resembling a contrast study. View Large Image Figure Viewer Download Hi-res image Barium enema showed a rectal atresia. Abdominal ultrasound scan showed bile duct dilatation as well as cystic dilatation of the duodenum.