Trilogy of foregut atresia without genetic abnormality: exception to the Martinez-Frias syndrome

Abstract

We present a case of oesophageal atresia with distal tracheo-oesophageal fistula and duodenal atresia, which later on was detected to have cystic variant of biliary atresia. He underwent primacy repair of oesophageal atresia with ligation of distal tracheo-oesophageal fistula and duodenoduodenostomy. He later developed features of obstructive jaundice, and on investigation was diagnosed to have cystic variant of biliary atresia which was initially confused with iatrogenic biliary obstruction. Exploration and operative cholangiogram with biopsy confirmed cystic variant of biliary atresia and underwent successful Kasai procedure. Our case effectively demonstrates a rare triology of foregut atresia without an apparent genetic association. It highlights stepwise systematic management of foregut atresias in this patient and demonstration of cystic variant of biliary atresia. Even though these are rarely seen, still the clinician should be aware of such a possibility and should adopt a multimodality approach to diagnose and an aggressive approach to manage the condition.

Figure 1

(A) Babygram with arrested replogle tube in the upper pouch (arrow), 13 ribs, thoracic hemivertebra in the chest and double bubble appearance in the abdomen. (B) An ultrasound scan showing multicystic dysplastic right kidney with non-communicating cysts and dysplastic parenchyma. NGT, nasogastric tube.

Figure 2

Postoperative barium meal: (A) Seventh postoperative day following first surgery and (B) Eighth postoperative day following second operation.

Figure 3

(A) Ultrasound scan showing cystic variety of biliary atresia simulating dilated bile duct and gallbladder. (B) Nuclear medicine scan showing no excretion even at 24 h.