1/24. Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. methods: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/24. Prenatally closed gastroschisis with midgut atresia.Spontaneous prenatal closure of gastroschisis (GS) is rare and usually associated with atresia of the midgut. We describe a case of GS diagnosed at 20 weeks' gestation that resolved spontaneously in utero. At delivery the infant had an ileus. A laparotomy with a jejunocolostomy was performed, but she died at 2 months of age due to complications of total parenteral nutrition.- - - - - - - - - - ranking = 2.5keywords = atresia (Clic here for more details about this article) |
3/24. Gastrointestinal malformations in two infants born to women with hyperthyroidism untreated in the first trimester.We report two infants with gastrointestinal anomalies: one with esophageal atresia and tracheo-esophageal fistula and the other with biliary tree atresia, born to hyperthyroid women diagnosed and treated with methimazole after 14 weeks' gestation. Euthyroidism was documented in both infants. These cases raise the issue of whether untreated hyperthyroidism and not methimazole intake is the teratogen.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
4/24. Continent catheterizable urinary conduit constructed from defunctionalized colon.The authors describe a technique for construction of a continent catheterizable stoma from distal defunctionalized colon in a patient with imperforate anus, urethral atresia, and sacral agenesis.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
5/24. Obstructive jaundice associated with polysplenia syndrome in an older child.Polysplenia syndrome includes malrotation and various forms of heterotaxy. Associated with this and malrotation are extrahepatic biliary anomalies. Actual obstruction, other than in associated biliary atresia, is extremely rare, and rarer still in older children. An 11-year-old girl presented with obstructive jaundice, malrotation, and heterotaxy, which were found in association with common bile duct anomalies and intermittent common bile duct obstruction. This case illustrates that the differential diagnosis of obstructive jaundice, even in older children, should include congenital anomalies, and that biliary anomalies should be considered in cases of malrotation and heterotaxy.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
6/24. tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency.We studied 2 sibs, born to consanguineous parents, who presented with an MCA pattern which includes low birthweight, tracheoesophageal fistula, duodenal atresia, extrahepatic biliary atresia, hypoplastic pancreas, and hypospadias. This constellation of congenital anomalies appears to be a previously unreported autosomal recessive syndrome. A computerized search of the data files of the Spanish Collaborative Study of Congenital Malformations (ECEMC) identified 3 other unrelated infants with intestinal atresias, hypospadias, and low birth weight. These cases may represent a milder expression of the same syndrome.- - - - - - - - - - ranking = 1.5keywords = atresia (Clic here for more details about this article) |
7/24. microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months revealed immature testis tissue and no evidence of Mullerian structures. PCR amplification of the androgen receptor (AR) gene and flanking genomic regions revealed no evidence for deletion. Array-comparative genomic hybridization (array-CGH) for assessment of gene dosage in other regions of the genome was normal. This patient represents a multiple anomaly disorder similar to intestinal atresia-ocular anomalies-microcephaly syndrome (MIM#243605) but incorporating 46,XY sex reversal with testicular tissue, demonstrating a defect in the sexual differentiation pathway.- - - - - - - - - - ranking = 3keywords = atresia (Clic here for more details about this article) |
8/24. Hirschsprung's disease complicating colonic atresia.A case of colonic atresia associated with Hirschsprung's disease is described in a full term neonate presented with intestinal obstruction. laparotomy revealed type III colonic atresia. Histopathological examination suggested total aganglionosis in the postatretic colonic segment. The child recovered satisfactorily following two stage Duhamel - Martin's pull through procedure. Authors present their experience with the present case and the pertinent literature.- - - - - - - - - - ranking = 3keywords = atresia (Clic here for more details about this article) |
9/24. Late presentation of a duodenal web in a patient with situs inversus and apple peel jejunal atresia.A 16-year-old girl presented with signs of proximal intestinal obstruction. In the neonatal period, surgical correction of an apple peel atresia had been performed, and she also had a situs inversus abdominalis. Revision of the anastomosis had been done when she was 3 years old. Contrast studies apparently again showed a stricture of the anastomosis, which was treated by stricturoplasty. Because of persistent obstruction, reexploration was done and revealed a duodenal membrane. Anastomotic strictures are very rare several years after the primary operation, so other causes of obstruction should be sought.- - - - - - - - - - ranking = 2.5keywords = atresia (Clic here for more details about this article) |
10/24. Tracheal agenesis: management of the first 10 months of life.Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior wall of the esophagus, before dividing into the mainstem bronchi. The anomaly was unsuspected prenatally, as the scan showed pyloric atresia and complex congenital cardiac disease. Despite the patient's difficult course, with correction of the rare-associated malformations (cardiac and gastrointestinal tract anomalies), the fact that the child is lively and neurologically normal for her age, requires that we now consider the patency of the airway and the possibility of surgical correction, in accordance with a good quality of life.- - - - - - - - - - ranking = 0.5keywords = atresia (Clic here for more details about this article) |
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