1/33. 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) |
2/33. Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly.BACKGROUND: Caudal duplication is a spectrum of rare congenital anomalies with a possible heterogeneous pathogenesis including incomplete separation of monovular twins. methods: We report an autopsy case of a full-term infant with incomplete caudal duplication syndrome associated with multiple anomalies. RESULTS: These anomalies included a duplicated penis; double urinary bladder with an attenuated tunica muscularis; duplication of lower bowel with two ilia, appendices and colons; colonic hypogangliosis and left imperforated anus associated with rectourethral fistula. Other anomalies consisted of sacral meningomyelocele, sacral duplication with hypoplastic left sacrum and pelvic bones, muscle atrophy and hypoplasia of the left lower extremity, abnormal lobation of liver with stomach entrapment, omphalocele, and right atrial isomerism syndrome. The complex pattern of anomalies suggests the possibility that partial caudal duplication might be part of the spectrum of conjoined twinning.- - - - - - - - - - ranking = 0.067401762350227keywords = anus (Clic here for more details about this article) |
3/33. anal canal duplication in infants and children--a series of 6 cases.The authors present a series of six anal canal duplications (ACD), duplications of the alimentary tract located along the posterior side of the anal canal, with a perineal opening just behind the anus. Five asymptomatic duplications were diagnosed before the age of one year, by simple perineal inspection. A twelve-year-old girl presented with perineal and anal pains and diarrhoea. Fistulography revealed a tubular structure in five cases and a cystic structure in one case, behind the normal anal canal, in one case communicating with it. A presacral sacrococcygeal teratoma was found in two children and in one case it was visualised by preoperative US in an infant with a lumbosacral myelomeningocele. Surgical excision was performed by a perineal approach in 5 cases, by a combined sacral and perineal approach in the last case, because of the associated teratoma. Non-invasive preoperative investigations, consisting of a pelvic X-ray, US examination, barium enema and fistulography, are sufficient in most cases; MRI is reserved for special indications. Surgical treatment restores a normal perineal aspect, without sequelae, and avoids complications like those described in other types of digestive duplications: infection, ulceration, bleeding, malignant changes during later adult life. Associated anomalies are frequently described in the literature, especially presacral tumours (16%) and anorectal malformations (21%); they can influence the management, the surgical approach and the functional prognosis.- - - - - - - - - - ranking = 0.067401762350227keywords = anus (Clic here for more details about this article) |
4/33. 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) |
5/33. 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) |
6/33. 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 = 0.56740176235023keywords = atresia, anus (Clic here for more details about this article) |
7/33. 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) |
8/33. 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) |
9/33. 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) |
10/33. 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) |
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