Pyloric atresia associated with multiple intestinal atresias and pylorocholedochal fistula

Şencan, Aydın; Mir, Erol; Karaca, İrfan; Günşar, Cüneyt; Topçu, K. Meltem Çolak

doi:10.1053/jpsu.2002.34482

Cited by 22 publications

(16 citation statements)

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“…This will form a closed duodenal loop were biliary and pancreatic secretions will accumulate leading to massive distension of the duodenum which can perforate as happened in one of our patients or the secretions can reflux back into the biliary tree leading to their dilatation [10,22]. Other reported associated anomalies with CPA include Down's syndrome, Meckel's diverticulum, ureterovesical junction obstruction, pelviueretric junction obstruction, agenesis of the gallbladder and malrotation, high anorectal agenesis, congenital heart disease, cleft palate and pylorocholedochal fistula [23,24,25,26].…”

Section: Discussionmentioning

confidence: 90%

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Congenital pyloric atresia and associated anomalies

Al-Salem

2007

Pediatr Surg Int

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Congenital pyloric atresia (CPA) is a very rare condition that was first described by Calder in 1749. Commonly, CPA occurs as an isolated lesion, which has an excellent prognosis, but it can also be seen in association with other malformations, which can have a negative impact on the final outcome. The medical records of all patients with the diagnosis of CPA treated at our hospital were retrospectively reviewed for: age at diagnosis, sex, presenting symptoms, history of polyhydramnios, diagnosis, associated anomalies, operative findings, treatment and outcome. Eleven cases with the diagnosis of CPA were treated at our hospital. There were five males and six females. Seven were products of full term normal vaginal delivery and the remaining four were prematures. Their birth weights ranged from 1.2 to 3.9 kg (mean 2.2 kg). Polyhydramnios was seen in seven (63.6%). Associated anomalies were seen in six (54.5%). These included epidermolysis bullosa (EB) in three, hereditary multiple intestinal atresias (HMIA) in two including a duplication cyst in one of them, esophageal atresia in one, Down's syndrome in one, congenital heart disease in one, cleft palate in one and aplasia cutis congenital (ACC) in one. Intraoperatively, five had pyloric diaphragms, in two of them there were double diaphragms, three had pyloric atresia with a gap between the two ends and two had pyloric atresia with no gap. One of them had duodenal perforation as well as ileal perforation. The patients with pyloric diaphragms had excision of diaphragms and Heineke-Mickulicz pyloroplasty. Four of the other five patients had gastro-duodenostomy. One of them also had duodeno-jejunostomy due to associated distal duodenal atresia and excision of duplication cyst. The patient with duodenal and ileal perforation and because of the marked distension of the duodenum had reduction duodenoplasty, gastroduodenostomy, and duodeno-jejunostomy. The area of ileal perforation was resected and end-to-end anastomosis was done after correction of the associated malrotation. One patient with associated esophageal atresia had gastrostomy and gastrojejunostomy. Post-operatively, all did well initially, but subsequently, six of them died giving an overall survival of 45.5%. Sepsis was the cause of death in all of them. CPA is very rare and when it occurs in isolation it has a good prognosis. The association of CPA with HMIA is universally fatal. CPA in association with EB has a high mortality but there are encouraging results with the use of steroids and phenytoin. Sepsis continues to be the main cause of death and an associated combined immunodeficiency should be excluded.

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Section: Discussionmentioning

confidence: 90%

“…Its incidence is approximately 1 in 100,000 newborns and constitutes about 1% of all intestinal atresias [1,2]. In 1749, Calder reported the first case of CPA, and Touroff et al performed the first successful operation in 1940 [3,4]. Since than, several case reports and studies of small series appeared in the literature [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Congenital pyloric atresia and associated anomalies

Al-Salem

2007

Pediatr Surg Int

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“…[7] PA is also associated with EB and/or aplasia cutis congenitalis, as seen in our patient. [8] The coexistence of PA and EB was first described by Swinburne and Kohler in 1968. [1,9] Carmi suggested the pathophysiology of the disorder; therefore, it is also referred to as 'Carmi syndrome'.…”

Section: Discussionmentioning

confidence: 96%

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

Bıçakçı¹,

Tander²,

Çelik³

et al. 2012

Ulus Travma Acil Cerrahi Derg

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Pilorik atrezi (PA) ve epidermolizis bülloza (EB) birlikteliği genetik etyolojisi iyi bilinen fakat ender rastlanılan yenidoğanın acil cerrahi hastalığıdır. PA/EB, pilor atrezisi ile cilt ve mukozalardaki bülloz lezyonların beraberliği olarak tariflenir. Literatürde bugüne dek toplam 91 olgu bildirilmiş-tir. Bu yazıda iki yeni olgu sunuldu, literatür taraması yapıl-dı. Olgu 1: Üç günlük hasta safrasız kusma ve ekstremitelerde 2-3 cm çapında bülloz lezyonlarla başvurdu. Karın grafisinide sol üst kadranda hava-sıvı seviyesi vardı. Laparotomide pilor atrezisi saptanarak piloropilorostomi uygulandı. Sorunsuz taburcu edilen hasta iki ay EB'ye bağlı ağır sepsisten kaybedildi. Olgu 2: İki günlük hasta, boyunda, diz altında, ön yüzde, el sırtında ve sol dirsek üstünde yaygın cilt lezyonları mevcuttu. Karın grafisinde, dilate mide ve distalinde gaz yokluğu dikkati çekti. Pilor atrezisi ön tanısı ile ameliyat edilerek gastroduodenostomi uygulandı. Başlan-gıçta oral beslenmeyi iyi tolere eden hasta ameliyat sonrası 23'üncü cilt lezyonlarına bağlı ağır sepsis nedeniyle kaybedildi. PA/EB tanısı alan hastaların hemen hemen hepsi ilk birkaç yıl içinde kaybedilmektedir. EB'den kaynaklanan komplikasyonlar ölümlerin en yaygın nedenidir. Başarılı PA ameliyatlarından sonra bile, EB'ye bağlı cilt lezyonları, enfeksiyon ve metabolik problemlere yol açarak, ölümleri neredeyse kaçınılmaz hale getirmektedir.Anahtar Sözcükler: Epidermolizis bülloza; Carmi sendromu; pilor atrezisi.The coexistence of pyloric atresia (PA) and epidermolysis bullosa (EB) is a rare but well-known surgical emergency in neonates. PA/EB is described by the association of atresia of the pylorus and bullous lesions on the skin. Ninetyone cases have been reported in the literature to date. We present two new cases and evaluate the association of PA/ EB, its etiopathogenesis and the clinical properties. Case 1: A three-day-old female presented with nonbilious vomiting and bullous lesions 2-3 cm in diameter on the extremities. Abdominal X-ray showed a single air-fluid level in the left upper quadrant. At laparotomy, we found PA and performed a pyloro-pylorostomy. The patient died due to sepsis complication of EB two months after surgery. Case 2: A two-day-old male presented with severe dermal bullous lesions on the trunk, neck and extremities. His stomach was dilated and there was no gas distally. We found PA and performed gastroduodenostomy. Initially, he tolerated the feeding well, but he died due to severe sepsis on the postoperative 23rd day. Almost all neonates born with the PA/EB result in a fatal outcome in the first few years. The complications related to EB are usually the cause of death. Even after successful repair of PA, skin lesions lead to death due to infection.

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“…Se pueden asociar otras malformaciones, como aplasia cutis, ictiosis lamelar (paciente 2), atresias y malrotación intestinales, atresia de esófago, agenesia de vesícula biliar, malformación anorrectal, cardiopatías y uropatías. [1][2][3]6 No encontramos descrita la asociación de AP con hernia diafragmática, como en el paciente 3. 5 El estómago fetal puede verse dilatado en la atresia duodenal, pero se verá una "doble burbuja".…”

Section: Discussionunclassified

Atresia de píloro. Comunicación de 3 casos

2014

Arch Argent Pediat

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RESUMENLa atresia de píloro es una malformación digestiva infrecuente. La ecografía prenatal mostrará polihidramnios y dilatación gástrica fetal. En el 20% de los casos, la atresia de píloro se asocia con epidermólisis bullosa, una anomalía cutáneo-mucosa de alta morbimortalidad. En la ecografía prenatal, se podrá ver el signo de los "copos de nieve" en el líquido amniótico y alteraciones auriculares en el feto. Por biopsia corial, se determinan mutaciones genéticas asociadas con epidermólisis bullosa, que confirman la asociación y permiten asesorar a los padres portadores. La herencia es autosómica recesiva y 25% de los hijos pueden manifestarla. El recién nacido con atresia de píloro tendrá vómitos no biliosos y la radiografía abdominal mostrará dilatación gástrica y ausencia de aire intestinal. La atresia de píloro es una malformación corregible quirúrgicamente, con buen resultado. Se presentan tres neonatos con atresia pilórica. Palabras clave: atresia de píloro, polihidramnios, dilatación gástrica fetal. ABSTRACTPyloric atresia is a rare malformation of the alimentary tract. Fetal gastric dilatation and polihydramnios are the main prenatal sonographic findings. In 20% of the cases epidermolysis bullosa is associated. This is a group of genetic anomalies affecting the skin and mucous membranes, which appear fragile and easily blistering. Therefore, this association should be investigated as soon as pyloric atresia is prenatally suspected. The "snow flake" sonographic sign in the amniotic fluid and some irregularities in the fetal´s ears could be found and should motivate the investigation of those gene mutations known to be related to epidermolysis bullosa, in order to accomplish an appropriate familial counseling. The parents would be carriers of certain mutation and 25% of the siblings will be affected. A newborn with pyloric atresia will soon exhibit non-bilious vomiting and distention of the upper abdomen. A huge gastric dilatation and a gasless intestine will be apparent in the abdominal plain x-ray. Pyloric atresia is a surgically resolvable malformation. We present herein three patients with this infrequent anomaly.

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Pyloric atresia associated with multiple intestinal atresias and pylorocholedochal fistula

Cited by 22 publications

References 12 publications

Congenital pyloric atresia and associated anomalies

Congenital pyloric atresia and associated anomalies

Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature

Atresia de píloro. Comunicación de 3 casos

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