Pyloric Atresia Associated with Epidermolysis Bullosa: A Report of 4 Survivals in 5 Cases

Iranian Journal of Pediatrics 01/2007; 17.
Source: DOAJ


Objective: Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of allintestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as anisolated condition or associated with other abnormalities, the most common being Junctionalepidermolysis bullosa (EB). Evidence suggests that PA-EB is a distinct entity. In this report, wepresent 5 cases of pyloric atresia associated with Junctional epidermolysis bullosa, 4 of whomsurvived after surgery.Cases Presentation: Prospective evaluation of 5 patients with pyloric atresia associated withEpidermolysis bullosa undergoing therapeutic surgery. Biopsy of the fresh bulla was compatible withJunctional EB in all 5 patients. All patients underwent laparatomy after stabilization. Four neonatesunderwent gastroduodenostomy, and one patient had excision of membrane and pyloroplasty. Out of5 neonates, 4 survive and one died from fulminant septicemia 12 days after operation.Conclusion: Although association of PA with EB has been reported to be fatal, recently there havebeen encouraging reports of survival among these patients. These 5 patients underwent surgery andsurvived, and are doing well on follow up.

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    ABSTRACT: Background Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining aspects of diagnosis, associated anomalies and management. Patients and methods This is a retrospective analysis of 20 cases seen over a 22 year period (December 1990 to December 2012). Their records reviewed for: age, sex, presentation, prenatal history, associated anomalies, investigations, treatment, operative findings and the outcome. Results 20 cases (9 Males, 11 Females) were treated. 7 patients were full term and the remaining 13 were prematures. Their mean birth weight was 2.1 kg (1.1 kg to 3.9 kg). Polyhydramnios was seen in 13 patients (65%). Two were brothers and four were members of the same family. Isolated CPA was seen in 7 (35%); 13 had an associated conditions: epidermolysis bullosa (EB) in 8 (40%) and multiple intestinal atresias (MIA) in 5 (25%). Three patients had associated esophageal atresia. All were operated on except two who died early due to unrelenting sepsis. The variety of pyloric atresias encountered were as follows: pyloric diaphragm in 13 including double diaphragms in 2, pyloric atresia with a gap in 4 and pyloric atresia without gap in 3. Ten died postoperatively giving an overall survival of 40%. Conclusions CPA is a very rare condition. Isolated CPA carries a good prognosis. Association of CPA with other familial and congenital anomalies like EB and MIA carries a poor prognosis.
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