PubMed · 7153268
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H Larrieu, B Millat, F Gayral. 1982. [Indications for duodenoplasty].. https://pubmed.ncbi.nlm.nih.gov/7153268/
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Intestinal atresia and gallbladder agenesis are rare congenital malformations usually presenting as isolated and sporadic. We present and discuss the case of 2 sisters affected by a previously unreported association of these 2 anomalies.
This report describes two newborns with persistent bile-stained vomiting. Their radiological investigations revealed the existence of situs inversus and duodenal obstruction. In one, the duodenal obstruction was partial, secondary to a duodenal diaphragm with a central aperture, whereas the other child had complete duodenal atresia as well as Fallot's tetralogy. Such an association is extremely rare, with only 18 cases reported so far in the literature. Embryological aspects, investigations, and treatment are also discussed.
Duodenal atresia (DA) is not uncommon, either as an isolated anomaly or associated with trisomy 21, malrotation, or cardiac anomalies. It may be diagnosed on antenatal ultrasound by a "double-bubble" sign, which typically persists after birth on a plain abdominal radiograph. DA as a familial association is rare but has been reported with or without other associated anomalies. We report DA in two siblings of nonconsanguineous parents, one case occurring with an annular pancreas in association with gestational diabetes. These two cases suggest possible genetic and environmental components in the aetiology of this anomaly.