Taiwanese journal of obstetrics & gynecology · 2026
A case of Hirschsprung disease of total intestinal aganglionosis with intestinal dilatation and peristalsis on prenatal ultrasound.
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Shimizu Yumi, Hamada Yuri, Murakoshi Takeshi
Аннотация
OBJECTIVE: To present a case of total intestinal aganglionosis (TIA), which is the rarest form of Hirschsprung disease (HD) and is difficult to diagnose prenatally owing to nonspecific prenatal ultrasound findings.
CASE REPORT: In a 34-year-old primipara with a history of HD (total colonic aganglionosis), intestinal dilatation with intestinal movement like peristalsis was observed in the fetus starting at 36 weeks of gestation. By 38 weeks of gestation, the fetal abdominal circumference had increased, prompting cesarean section delivery. Prenatal ultrasound and postnatal barium enema findings suggested small intestinal obstruction, and the infant underwent laparotomy. However, HD was suspected based on the small intestinal dilatation associated with caliber changes. A full-layer biopsy from the dilated small intestine to the stomach revealed no ganglion cells, leading to a diagnosis of TIA.
CONCLUSION: Prenatal ultrasonography may reveal fetal intestinal dilatation with intestinal movement like peristalsis in HD, even in the aganglionic portion.
CASE REPORT: In a 34-year-old primipara with a history of HD (total colonic aganglionosis), intestinal dilatation with intestinal movement like peristalsis was observed in the fetus starting at 36 weeks of gestation. By 38 weeks of gestation, the fetal abdominal circumference had increased, prompting cesarean section delivery. Prenatal ultrasound and postnatal barium enema findings suggested small intestinal obstruction, and the infant underwent laparotomy. However, HD was suspected based on the small intestinal dilatation associated with caliber changes. A full-layer biopsy from the dilated small intestine to the stomach revealed no ganglion cells, leading to a diagnosis of TIA.
CONCLUSION: Prenatal ultrasonography may reveal fetal intestinal dilatation with intestinal movement like peristalsis in HD, even in the aganglionic portion.