Distal duodenal stenosis in Down's syndrome - a rare challenge

Abstract

We present a case of distal duodenal stenosis without a wind sock deformity in a Down's syndrome presenting with non-bilious vomiting, constipation and bilious aspirates simulating Hirschsprung's disease. Despite high index of suspicion and actively looking for associated congenital duodenal obstruction it eluded detection. The plain film and rectal biopsy in neonatal period were normal. It was the upper gastrointestinal study which helped in diagnosis. At exploration, distal duodenal stenosis without wind sock deformity was identified. Duodeno-jejunostomy was curative.

Congenital duodenal windsock deformity simulating midgut volvulus and treated with innovative minimal invasive technique and duodenoplasty

“…The congenital incomplete duodenal stenosis with a diaphragm having an opening in it is very rare and may present at variable age with acute intestinal obstruction or can mimic volvulus or Hirschsprung's disease [3]. Our case had no polyhy-dramnios or associated anomalies like trisomy 21 or VACTREL association and was missed at prenatal scans.…”

“…Congenital duodenal obstruction is more common with complete atresia in trisomy 21 and babies with VACTREL association and can be diagnosed prenatally as they have polyhydramnios and prenatal scan can easily diagnose them. Incomplete partial duodenal obstruction with fenestrated diaphragm with windsock deformity is a rare anomaly which can cause diagnostic challenges [1][2][3][4][5][6]. It commonly presents in the prenatal, neonatal period and early infancy with symptoms of partial obstruction but late presentations in childhood is well documented.…”