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

Iranian Journal of Pediatrics (Impact Factor: 0.26). 12/2007; 17(4).
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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Available from: Alireza Alam
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    ABSTRACT: The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida.
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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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