Contributed by: Joan E. Pellegrino, MD. Debra Day-Salvatore .... Bull MJ, Norins AL, Weaver DD, Weber T, Mitchell M. Epidermolysis bullosa- pyloric atresia: an ...
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Genetics Casebook Debra Day-Salvatore, MD, PhD, Section Editor Contributed by: Joan E. Pellegrino, MD Debra Day-Salvatore, MD, PhD Mary White, RDMS Allan J. Fisher, MD Mujahid Anwar, MD Irwin H. Krasna, MD A 27-year-old Italian woman, gravida 2, para 0-0-1-0, was referred to the antenatal testing unit at 29 weeks’ gestation after a motor vehicle accident. A routine ultrasound at 18 weeks’ estimated gestational age by dates was reportedly unremarkable. Ultrasound examination immediately following the motor vehicle accident demonstrated an appropriately grown fetus with an average gestational age by ultrasound of 30 weeks and 1 day and an increased amniotic fluid index (AFI) of 27.7. A grade 1 placenta was anteriorly placed, and there was no evidence of placental separation, intraplacental bleeding, or subchorionic separation. The patient developed preterm labor at 34 weeks’ and 5 days’ gestation and was treated with Brethine and intravenous hydration. A follow-up scan at 35 weeks’ and 5 days’ gestation revealed an AFI of 34.3, gastric dilatation, and a biophysical profile score of 8/8. The longitudinal diameter of the stomach measured 5.9 cm and the anteroposterior diameter measured 2.4 cm, both of which exceeded the dimensions of 2.8 6 0.9 cm and 1.6 6 0.4 cm (mean 6 2 SD) of controls at 34 to 36 weeks.1 There was no “double bubble” sign or dilated loops of bowel to suggest either duodenal atresia or distal obstruction. Follow-up ultrasound at 37 weeks and 4 days noted a persistence of polyhydramnios and the fetal stomach remained prominent. Labor was induced at 37 weeks’ and 5 days’ gestation secondary to increasing polyhydramnios and modest maternal respiratory compromise. A 3150-gm male infant was delivered vaginally
with vacuum extraction and low forceps assistance. Apgars were 9 and 9 at 1 and 5 minutes, respectively; a three-vessel umbilical cord was noted. The infant was suctioned by bulb and orogastric catheter and cried immediately. A catheter was easily passed into the stomach and both nares. The infant was noted to be pale with prolonged capillary refill and was admitted to the intensive care nursery for further evaluation and management. Physical examination was remarkable for marked subcutaneous edema over the left temporal–parietal region, a cephalohematoma, edema of the eyelids, mild arachnodactyly, and a sacral dimple. There were no dysmorphic features noted, and the skin was normal without sloughing or bullous lesions. Within hours of delivery, the infant developed nonbilious vomiting and abdominal distension. An abdominal radiograph showed no air past the stomach, and an upper gastrointestinal series revealed complete pyloric obstruction. An electrocardiogram and computed tomography of the head were unremarkable. The infant underwent a pyloroplasty on the second day of life; the final postoperative diagnosis was pyloric atresia. A Broviac catheter was placed for intravenous hyperalimentation and removed before discharge. The infant did well postoperatively and was discharged from the hospital on full feeds at 26 days of life. DENOUEMENT AND DISCUSSION Pyloric Atresia Pyloric atresia is a rare congenital anomaly that accounts for less than 1% of all gastrointestinal atresias.2 The estimated incidence is 1
Division of Clinical Genetics ( J. E. P., D. D.-S.) and Division of Maternal-Fetal Medicine (M. W., A. J. F.), Department of Obstetrics, Gynecology and Reproductive Sciences, Division of Neonatology (M. A.), Department of Pediatrics, and Division of Pediatric Surgery (I. H. K.), Department of Surgery, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School and St. Peter’s Medical Center, New Brunswick, NJ. This work is supported in part by a grant from the Special Child/Adult Health Services, New Jersey State Department of Health and Senior Services. Address correspondence and reprint requests to Joan E. Pellegrino, MD, Division of Clinical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Medicine and Dentistry of New Jersey–Robert Wood Johnson Medical School, St. Peter’s Medical Center, 254 Easton Avenue, New Brunswick, NJ 08903-0591.
Figure 1 Ultrasound scan at 35 weeks’ and 5 days’ gestation demonstrating gastric dilatation. Journal of Perinatology (1999) 19(1) 72–73 © 1999 Stockton Press. All rights reserved. 0743– 8346/99 $12
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in 1 million live births. It can occur as an isolated finding or in association with underlying genetic syndromes. 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).7–11 Infants with distal gastric atresia usually present with nonbilious emesis and upper abdominal distension after the initiation of feeds. A maternal history of polyhydramnios has been reported in 60% of cases.7,12 Prenatal diagnosis of congenital gastric outlet obstruction has been previously reported in only nine cases,11,13–20 two of which were associated with epidermolysis bullosa letalis13,14 and one a family history of an affected sibling.11 The earliest suspected diagnosis occurred at 22 weeks’ gestation.15 This case reminds us that, although rare, congenital pyloric atresia should be suspected prenatally in cases of polyhydramnios with persistent fetal gastric dilatation and the absence of duodenal or other bowel dilatation. The presence of other sonographic markers for aneuploidy (e.g., increased nuchal fold, shortened femur of humerus, congenital heart defect) should prompt a fetal karyotype. An elevated a-fetoprotein, particularly in conjunction with echogenic particles in the amniotic fluid (a finding associated with fetal skin sloughing) should prompt consideration of a fetal skin biopsy. The pregnancy should be followed closely for increasing polyhydramnios and premature labor, and consideration given to delivery at a tertiary level facility for expectant neonatal management. The parents should also be counseled that a 25% recurrence risk can not be excluded, and future pregnancies should be monitored appropriately. Acknowledgment Special thanks to Rosemarie Peschek for her expert administrative assistance. References
Pellegrino et al.
4. Carmi R, Sofer S, Karplus M, et al. Aplasia cutis congenita in two sibs discordant for pyloric atresia. Am J Med Genet 1982;11:319 –28. 5. Matsuo Y, Nukina S, et. Al, Combined esophageal and pyloric atresia without tracheoesophageal fistula in Down’s syndrome. Acta Pediatr Jpn 1988;30:632– 4. 6. Patel SB, Milstein JM, Schwartz MZ, Wood BP. Radiological case of the month: congenital pyloric atresia in Down syndrome. Am J Dis Child 1993;147:307– 8. 7. Bronsther B, Nadeau MR, Abrams MW. Congenital pyloric atresia: a report of three cases and a review of the literature. Surgery 1971;69:130 – 6. 8. Bar-Maor JA, Nissan S, Nevo S. Pyloric atresia: a hereditary congenital anomaly with autosomal recessive transmission. J Med Genet 1972;9:70 –2. 9. Tan KL, Murugasu JJ. Congenital pyloric atresia in siblings. Arch Surg 1973;106: 100 –2. 10. Kadowaki H, takeuchi S, Nakahira M, Yamada C, Tamate S, Shiokawa C. Congenital pyloric atresia: a report of three cases. Am J Gastroenterol 1981;76:449 – 52. 11. Peled Y, Hod M, Friedman S, Mashiach R, Greenberg N, Ovadia J. Prenatal diagnosis of familial congenital pyloric atresia. Prenatal diagnosis 1992;12:151– 4. 12. Moore CCM. Congenital gastric outlet obstruction. J Pediatr Surg 1989;24:1241– 6. 13. Achiron R, Hamiel-Pinchas O, Engelberg S, Barkai G, Reichman B, Maschiach S. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the role of prenatal ultrasonography. Prenat Diagn 1992;12:765–71. 14. Dolan CR, Smith LT, Sybert VP. Prenatal detection of Epidermolysis Bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alphafetoprotein. Am J Med Genet 1993;47:395– 400. 15. Weissman A, Achiron R, Kuint J, Lipitz S, Mashiach S, Avigad I. Prenatal diagnosis of congenital gastric outlet obstruction. Prenat Diagn 1994;14:888 –91. 16. Sharony R, Sinow R, Asch M, Lachman R. Prenatal ultrasound diagnosis of gastric outlet obstruction due to a pyloric web. Prenat Diagn 1995;15:56 –9. 17. Rizzo G, Capponi A, Arduini D, Romanini C. Prenatal diagnosis of gastroesophageal reflux by color and pulsed Doppler ultrasonography in a case of congenital pyloric atresia. Ultrasound Obstet Gynecol 1995;6:290 –2.
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3. Bull MJ, Norins AL, Weaver DD, Weber T, Mitchell M. Epidermolysis bullosapyloric atresia: an autosomal recessive syndrome. Am J Dis Child 1983;137:449 – 51.
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20. Zimmerman HB. Prenatal demonstration of gastric and duodenal obstruction by ultrasound. J Can Assoc Radiol 1978;29:138 – 41.
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