1/25. A rare case of completely isolated duplication cyst of the alimentary tract.A rare case of a gastrointestinal cystic duplication in a 7-day-old infant is described. The duplication diagnosed antenataly at 25 weeks of gestation was found during surgery to be separated from the gastrointestinal tract, hanging on a vascular pedicle, with no connection to the mesentery. The duplication was excised, and postoperative follow-up of 14 months was uneventful. The possible pathogenesis of this malformation is discussed.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/25. Persistent cloaca: are we ready for a correct prenatal diagnosis?Cloacal malformations are rare and can present in variable aspects. The importance of ultrasound in detecting these anomalies is well known. Sonographic features vary in accordance with the type of malformation and the gestational age. A positive diagnosis is not possible because of the lack of specific ultrasound findings, which can show similar aspects to other abnormalities. We present 3 cases of prenatal diagnosis of this malformation, emphasizing that in the presence of a plurilobed cystic pelvic fetal mass with associated malformations, such as cardiac, renal, and vertebral anomalies, a persistent cloaca can reasonably be suspected.- - - - - - - - - - ranking = 4keywords = malformation (Clic here for more details about this article) |
3/25. 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 = 1keywords = malformation (Clic here for more details about this article) |
4/25. Multiple anomalies in a fetus exposed to low-dose methotrexate in the first trimester.BACKGROUND: methotrexate has multiple therapeutic uses in women of reproductive age including treatment for ectopic pregnancy, neoplastic disease, autoimmune disorders, and inflammatory conditions. More frequent use of methotrexate may result in an increased number of exposures in pregnant women and their fetuses. CASE: A 16-year-old gravida 1, para 0 used oral methotrexate treatment of 7.5 mg per day for psoriasis for 2 days at 3.5 weeks postconception. Multiple anomalies were noted on an 18-week ultrasound. Fetopsy revealed craniofacial, axial skeletal, cardiopulmonary, and gastrointestinal abnormalities. CONCLUSION: A minimal, low-dose, brief exposure to methotrexate in the first trimester resulted in a fetus with multiple internal and external malformations. Some of the anomalies (craniofacial and skeletal) have been previously reported with first- trimester methotrexate exposure. This case depicts the association of cardiopulmonary and gastrointestinal abnormalities with methotrexate exposure.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
5/25. 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 = 4keywords = malformation (Clic here for more details about this article) |
6/25. Anorectal malformation with malrotation of gut.Infants with anorectal anomaly have a high risk of having other congenital anomalies, but associated gastrointestinal tract anomalies are quite rare. Malrotation of gut is rarely associated with anorectal anomaly. We report two such cases of anorectal malformation with malrotation of gut. The high index of suspicion, diagnostic difficulty and surgical management with avoidance of appendicectomy in these neonates is discussed.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
7/25. trisomy of chromosome 20.A neonate with ususual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotope of 47,XX, 20.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
8/25. Acrorenal syndrome: further observations.A 23-year-old female patient with the acrorenal syndrome is described. In addition to acral and renal malformations, she had anomalies of the gastrointestinal and genital tracts. An annular pancreas had caused duodenal obstruction and had been associated with malrotation of the bowel. Secondary sexual characteristics were absent; no ovaries were identified by pelvic ultrasound, and endocrine investigations were compatible with non-functioning ovaries.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
9/25. An extremely rare inversion of the preduodenal portal vein and common bile duct associated with multiple malformations. Report of an adult cadaver case with a brief review of the literature.A preduodenal position of the portal vein (PDPV) is a very rare congenital anomaly; even rarer is its association with a preduodenal position of the common bile duct (PDCBD). To the seven cases of PDCBD mentioned in the literature, we add this particularly rare case which is associated with multiple abnormalities such as situs inversus totalis, intestinal malrotation, short pancreas, bilobed spleen, accessory spleen, and abnormal ramification of the celiac axis, superior mesenteric artery and renal arteries. Besides describing and illustrating this case, we also discuss the anatomy and embryology of these structures and briefly review the patterns of previously reported cases that we found. We performed an immunohistochemical examination of the pancreas to demonstrate the ventro-dorsal pancreas in our case. For the explanation of the embryology of the PDCBD, the ventro-dorsal pancreas and PDPV malformation, we emphasized the reverse rotation of the ventral pancreas and duodenum.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
10/25. Gastrointestinal perforations in neonates with anorectal malformations.We describe the presentation and management of gastrointestinal perforation in four neonates with anorectal malformations. Two neonates with high malformation had pneumoperitoneum on X-ray; surgery revealed sigmoid perforation in one patient and transverse colon perforation in the other. colostomy was done, followed by posterior sagittal anorectoplasty at four months; both recovered satisfactorily. The third neonate had no radiological feature of gut perforation but cecal perforation was found at surgery; the neonate recovered following right hemicolectomy with stoma followed by anorectoplasty at five months. The fourth neonate presented with clinical and radiological features of perforation and recovered satisfactorily after anoplasty and colostomy.- - - - - - - - - - ranking = 6keywords = malformation (Clic here for more details about this article) |
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