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Prenatally diagnosed congenital pyloric atresia in consecutive three siblings: a case report
Ryuta Saka1, Dan Yamamoto2, Seika Kuroda3
1Department of Pediatric Surgery, National Hospital Organization Fukuyama Medical Center, 4-14-17 Okinogamicho, Fukuyama, Hiroshima, 720-8520, Japan. saka@pedsurg.med.osaka-u.ac.jp.
Insights
Congenital pyloric atresia (CPA) is a rare condition diagnosed prenatally via ultrasound. Timely diagnosis and surgical intervention lead to healthy outcomes for affected infants.
Area of Science:
- Pediatric Surgery
- Neonatal Medicine
- Gastroenterology
Background:
- Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly.
- CPA is often associated with epidermolysis bullosa (EB).
- Delayed diagnosis of isolated CPA can lead to increased morbidity.
Purpose of the Study:
- To report on a familial case of congenital pyloric atresia.
- To highlight the utility of prenatal diagnosis in managing CPA.
- To demonstrate successful surgical outcomes in infants with CPA.
Main Methods:
- Case presentation of three female siblings diagnosed with CPA prenatally.
- Prenatal diagnosis was based on ultrasound findings (polyhydramnios, dilated stomach).
- Surgical reconstruction included pyloromyotomy and various gastroduodenostomy techniques.
Main Results:
- All three infants had an uneventful postoperative course.
- The siblings experienced healthy growth without complications.
- Prenatal diagnosis facilitated timely postnatal surgical intervention.
Conclusions:
- Fetal ultrasonography is a valuable tool for prenatal diagnosis of CPA.
- Early detection through prenatal imaging enables prompt surgical management.
- Successful outcomes are achievable with timely intervention for congenital pyloric atresia.
Background:
Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity.
Case Presentation:
Three female infants born to a Japanese mother presented with CPA at birth. There was no consanguinity between the parents, and the spacing between pregnancies was 2 years in each case. All 3 siblings had a prenatal diagnosis of CPA owing to polyhydramnios and a dilated stomach, without dilatation of the rest of the gastrointestinal tract. All patients underwent reconstructive surgeries for establishing bowel continuity (Case 1, pyloromyotomy; Case 2, gastroduodenostomy in a diamond fashion; and Case 3, gastroduodenostomy in a side-to-side fashion) soon after birth. Their postoperative courses were uneventful, and they grew up healthily, without any complications.
Conclusion:
Fetal ultrasonography is useful for diagnosing CPA prenatally. Successful prenatal diagnosis can lead to timely intervention after birth.
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