Combined Esophageal and Pyloric Atresia without Tracheoesophageal Fistula in Down's Syndrome

Abstract

This is the fmt report of a newborn infant with Down's syndrome associated with combined congenital pyloric and esophageal atresias without a tracheoesophageal fistula (Gross A type).A mother was noted to have marked abdominal distension and hydramios was suspected at 28 weeks gestation. Ultrasonographic findings of her abdomen demonstrated that the fetus was suspected of having congenital duodenal and esophageal atresia, from the large doubleecho-free spaces occupying the greater part of the abdomen. Chromosome analysis of the amniotic fluid showed a karyotype of 21 trisomy. The newborn baby had clinical characteristics of Down's syndrome and severe abdominal distension after birth.At 19 days after birth, autopsy revealed pyloric and esophageal atresias without tracheoesophageal btula.We conclude that ultrasonographic examination is useful for the prenatal diagnosis of a patient with gastrointestinal obstruction combined with esophageal atresias, without tracheoesophageal fBtula. Case ReportA 2,678 g female was born at 35 weeks and three days gestation. The mother was 37 years old, gravida 3, para 2, abortion 0, and had no remarkable medical history except for hysteromyoma. Her first and second children were in good health. The pregnancy had progressed satisfactorily.At 28 weeks gestation, ultrasonogra-

Sonographic findings in a case of congenital pyloric diaphragm

“…The prenatal clues to epidermolysis bullosa with pyloric atresia include a family history, consanguineous mating, presence of acetylcholinesterase, echogenic particles and elevated concentrations of alpha-fetoprotein in the amniotic fluid, polyhydramnios, an enlarged stomach, malformed ears, renal malformations, thinness and blistering of the skin, and malposition of the first toe [13][14][15][16][17] . There is no significant association between congenital gastric outlet obstruction and fetal aneuploidy 18,19 although congenital pyloric atresia was reported in two cases of Down syndrome 20,21 .…”

“…Several reports have presented prenatal sonographic findings of pyloric atresia [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] . However, to the best of our knowledge, only three reports described a distal gastric web 19,22,23 .…”

Genetics Casebook

“…Pyloric atresia has been described as a feature of epidermolysis bullosa letalis with pyloric atresia (OMIM 226730) 3 and lethal restrictive dermopathy (OMIM 275210) 4 and has been reported in two cases of Down's syndrome. 5,6 Familial cases of isolated pyloric atresia are associated with an autosomal recessive pattern of inheritance (OMIM 265950). [7][8][9][10][11] Infants with distal gastric atresia usually present with nonbilious emesis and upper abdominal distension after the initiation of feeds.…”