Congenital segmental dilatation of the small bowel

Abstract

Antenatal ultrasonographic examination at 30 weeks' gestation of a hyperthyroid mother, revealed a large sonolucent lesion 2.6 × 3.5 cm (Fig 1) on the right side of the abdomen of a male fetus. It was thought to be either a choledochal cyst or an enteric duplication cyst, and in the absence of significant increase in size or polyhydramnios on follow-up, it was decided to manage the condition after a normal term delivery. At 3 hours of age, progressive abdominal distension developed with respiratory distress that required intubation and ventilatory support. Plain film of the chest and abdomen (Fig 2) showed a radiolucent cystic lesion occupying the entire right side of the abdomen and crossing the midline. The neonate also showed dysmorphic features (low set ears, focal dermal hypoplasia of scalp, hypoplastic nipples and nails, and left-sided choanal atresia) and chromosomal analysis revealed 46,XY, (15p+). Exploratory laparotomy revealed isolated segmental dilatation and hypertrophy of the distal jejunum 10 cm in length, requiring excision; end-to-end anastomosis was also done. The neonate made an uneventful recovery and histopathology of the resected bowel showed no abnormality.