1/29. Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines.BACKGROUND/PURPOSE: Pyloric atresia is an uncommon condition occurring in 1 of 100,000 live births. When occurring in isolation, the clinical course usually is uncomplicated after surgical treatment. However, it may occur in association with other congenital abnormalities. The authors present 5 new cases, 3 of associated abnormalities including 1 of esophageal atresia and 2 of agenesis of the gall bladder and malrotation. Agenesis of the gall bladder has not been described previously in combination with pyloric atresia. The literature has been reviewed and guidelines are suggested for the management. methods: The case records of 4 neonates who presented to the author's institution between January 1998 and June 1999 and 1 who presented at another center in 1991 were reviewed. A medline literature search was performed, and guidelines were developed for the management of this condition based on our cases and the literature review. RESULTS: patients 1 and 5 had no associated anomalies. Patient 2 had associated esophageal atresia, tracheoesophageal fistula, atrial septal defect, crossed renal ectopia, malrotation, and absent gall bladder. Patient 3 had a rectovestibular fistula, vaginal atresia, atrial septal defect, malrotation absent gallbladder, and absent extrahepatic portal vein. Patient 4 had epidermolysis bullosa. patients 2 and 5 had unremarkable recoveries, patients 2 and 3 had markedly delayed gastric emptying that responded to cisapride. Patient 3 has portal hypertension and remains under close follow-up. Patient 4 died at 22 days of age of pseudomonas sepsis. CONCLUSIONS: Based on our cases and literature review, we have adopted the following guidelines: (1) All children with pyloric atresia should be screened for multiple anomalies. (2) Delayed gastric emptying should be considered early and may respond to prokinetic agents. (3) association with epidermolysis bullosa should not preclude surgical treatment. (4) A skin biopsy specimen should be taken at the time of surgery for electron microscopy if there is a family history of epidermolysis bullosa.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/29. epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease. While the prognosis at this time is still poor, an increasing number of patients are surviving to adolescence with aggressive care. It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. Evidence of ureterovesicular obstruction may require bowel diversion, as excision of the obstructed ureterovesicular junction with reimplantation is often associated with a high risk of reobstruction. Many newborns succumb to sepsis or dehydration and electrolyte imbalance. Those infants who survive need close monitoring for the development of obstructive uropathy, failure to thrive, protein-losing enteropathy, respiratory compromise, and increased susceptibility to invasive infections. Once a clinical diagnosis is made, mutational analysis can confirm it and facilitate genetic counseling, as recurrence risks are 25% for this autosomal recessive condition. Mutational analysis enables direct genetic testing and accurate prenatal diagnosis. As more patients are studied, genotype/phenotype correlations may be possible.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
3/29. Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias).We describe the US findings in two vomiting newborns affected by different forms of pyloric atresia, a rare congenital anomaly that includes a spectrum of lesions limited to the antro-pyloric region of the stomach and with various inheritance mechanisms and syndromic associations.- - - - - - - - - - ranking = 0.9keywords = atresia (Clic here for more details about this article) |
4/29. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alphafetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.- - - - - - - - - - ranking = 0.6keywords = atresia (Clic here for more details about this article) |
5/29. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.Genetic mutations in alpha6beta4 integrin cause junctional epidermolysis bullosa with pyloric atresia, a genodermatosis characterized by blistering of the skin and pyloric occlusion. The lethal form of junctional epidermolysis bullosa with pyloric atresia has been mainly associated with the presence of premature termination codons in the mRNA encoding either the alpha6 or beta4 subunit causing rapid decay of the mutated transcript and absence of alpha6beta4 integrin. In this study, we disclose the genetic background of lethal junctional epidermolysis bullosa with pyloric atresia in a patient presenting absent expression of alpha6 integrin despite normal steady-state level of the alpha6beta4 mRNA. Screening for mutation in the alpha6 gene detected a homozygous base pair substitution (286 C-to-T), which results in the substitution of a serine with a leucine residue (S47L). The amino acid substitution S47L localizes in the first beta-strand of the seven-bladed beta-propeller structure of the extracellular head of alpha6 integrin, and triggers a rapid proteolysis of the aberrant polypeptides involving the lysosomal degradation pathway. This study provides new insight into the pathogenic effect of a mis-sense mutation affecting a functional domain of a protein, and identifies a critical peptide sequence of the beta-propeller domain conserved among the alpha integrin cell receptors.- - - - - - - - - - ranking = 0.7keywords = atresia (Clic here for more details about this article) |
6/29. Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa with pyloric atresia (PA-JEB) who were found to carry mutations in the integrin beta4 subunit gene (ITGB4). Although in both patients Northern blot analysis showed only a 50% reduction in the level of ITGB4 transcript, a complete lack (patient 1) or a strong reduction (patient 2) of beta4 immunoreactivity was observed in the skin. Using immunoprecipitation analysis, integrin beta4 could not be visualized in patient 1 cells while a markedly reduced amount (approximately 20%) of normal sized beta4 chains was detected in patient 2. These data suggested the presence of ITGB4 mutations that interfere with both mRNA and protein stability. Using molecular analysis, patient 1 was shown to be a compound heterozygous for a single amino acid deletion (deltaN318) and a not yet identified mutation that induces a very rapid decay of the encoded mRNA transcript. Patient 2 was, instead, a compound heterozygous for a novel 4-bp tandem duplication (4298-4299ins4) and a previously described missense mutation (R252C). Our data support the notion that PA-JEB lethal phenotypes associated with a markedly decreased/absent alpha6beta4 expression can be due not only to the presence of null alleles, but also to specific mutations leading to protein instability and/or altered function.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
7/29. Pyloric atresia associated with epidermolysis bullosa--three cases presenting in three months.Three neonates presenting with pyloric atresia and epidermolysis bullosa are described in this report. Two babies underwent surgery for pyloric atresia, and 1 of these has survived until 3 months of age with no complications. The clinical presentation and complications of the pyloric atresia-epidermolysis bullosa syndrome are discussed with a brief review of literature.- - - - - - - - - - ranking = 0.7keywords = atresia (Clic here for more details about this article) |
8/29. Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive genetic disease with a poor prognosis. We report a case of EB-PA in a non-consanguineous couple with a non-contributory family history. The primigravid woman was referred to us because of polyhydramnios associated with fetal gastric dilatation at 33 weeks of gestation. Maternal serum alpha-fetoprotein (AFP) had been elevated at 15 weeks' gestation (3.08 multiples of the median), and ultrasound examination showed polyhydramnios with echogenic amniotic fluid, gastric dilatation, and no other associated malformation. The fetal karyotype was normal female (46,XX). acetylcholinesterase (ACHe) and AFP levels in the amniotic fluid were normal. Labor occurred spontaneously at 35 weeks' gestation. Clinical examination of the newborn showed large areas of cutaneous blisters and erosions, as well as pyloric atresia. Immunofluorescence analysis of skin samples confirmed EB-PA. Molecular analysis showed a new mutation of the integrin beta-4 gene: heterozygote missense deletions (3807delC/310delC, respectively, exons 31 and 5). The child died from severe sepsis at the age of 13 days. Our observation emphasizes the difficulty of interpreting prenatal ultrasound findings when there is no suggestive context.- - - - - - - - - - ranking = 0.6keywords = atresia (Clic here for more details about this article) |
9/29. Bart syndrome with associated anomalies.Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.- - - - - - - - - - ranking = 0.2keywords = atresia (Clic here for more details about this article) |
10/29. Carmi syndrome complicated by pharyngo-esophageal perforation.We describe a neonate having congenital pyloric atresia (CPA) associated with epidermolysis bullosa (EB), also known as Carmi syndrome. The case is unusual as it was complicated with pharyngo-esophageal perforation (PEP) and a definite family history of EB in pervious generations could be recorded.- - - - - - - - - - ranking = 0.1keywords = atresia (Clic here for more details about this article) |
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