Congenital gastric outlet obstruction

Moore, Colin

doi:10.1016/s0022-3468(89)80559-7

Cited by 60 publications

(44 citation statements)

References 59 publications

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“…In view of the consanguinity, and despite the absence of any previous case in the family, the hypothesis of a pyloric atresia syndrome with an autosomal recessive mode of inheritance, was then raised (Moore, 1989). It was even thought that sonographic signs were suggestive of the PA-JEB syndrome.…”

Section: Ultrasound Examinationmentioning

confidence: 99%

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

et al. 2000

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Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.

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Section: Ultrasound Examinationmentioning

confidence: 99%

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

et al. 2000

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“…There was neither intestinal malrotation nor abnormal mesenteric attachment. The pylorus was replaced by fibrous band tissue approximately 1 cm long bridging the dilated stomach and duodenal bulbus, consistent with congenital pyloric atresia (pyloric gap atresia type III according to Moore's classification [9]). Side-to-side gastroduodenostomy was carried out.…”

Section: Case Reportmentioning

confidence: 71%

Intermittent ‘Double Bubble’ Sign in a Case of Congenital Pyloric Atresia

et al. 2002

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We report a case of congenital pyloric atresia in which two cystic masses in the fetal upper abdomen and polyhydramnios were observed from 24 weeks’ gestation to term. The two cystic masses were thought to indicate the ‘double bubble’ sign in utero, leading to a misdiagnosis of congenital duodenal obstruction. At 33 weeks’ gestation, continuous ultrasound observation of the two cystic masses was made for 60 min. During the periods when gastric peristalsis was absent, the ‘double bubble’ sign was observed. However, during the periods when gastric peristalsis was present, the ‘double bubble’ sign disappeared. In retrospect, both cystic masses were stomach and the ‘double bubble’ sign disappeared with peristalsis of the antrum. In order to differentiate from congenital duodenal obstruction, whole stomach configuration should be delineated by continuous observation covering periods when gastric peristalsis is active as well as quiet.

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“…The recommended treatment for a pyloric web is excision of the web in combination with a pyloroplasty. [16] For solid PA, the treatment of choice is Heineke-Mikulicz pyloroplasty if the atresia is short. Excision of the atretic segment with gastroduodenostomy is the choice of treatment if the solid cord is long.…”

Section: Discussionmentioning

confidence: 99%

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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Congenital gastric outlet obstruction

Cited by 60 publications

References 59 publications

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Intermittent ‘Double Bubble’ Sign in a Case of Congenital Pyloric Atresia

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

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