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1/101. 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. ( info)

2/101. 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. ( info)

3/101. Case report: Colonic duplication: a rare cause of obstruction.

    Complete duplication of the entire large bowel with partial ileal involvement is very rare and diagnosis can often be difficult as illustrated by this case report. We also review the other clinical associations of this rare condition and briefly discuss the embryology of duplications of the gastrointestinal tract. ( info)

4/101. Sigmoid adhesion caused by a congenital mesocolic band.

    Congenital mesocolic band is an uncommon aberration in the development of the mesentery. Large-bowel obstruction secondary to adhesion and/or congenital band is very rare in children. A 6-month-old male infant who had no history of previous surgery was admitted with unremitting crying. A barium enema showed extraintestinal compression of the sigmoid colon. laparotomy revealed an adhesive mesocolic band compressing the proximal part of the sigmoid colon. The band was lysed. The patient has remained asymptomatic since the procedure. ( info)

5/101. color Doppler sonography in the diagnosis of neonatal intrahepatic portosystemic shunts.

    Intrahepatic portosystemic shunts are infrequent in children. We report 3 cases of neonates who presented with jaundice during the first month of life. color Doppler sonography in the first 2 cases showed direct communication between the right portal and hepatic veins. Both infants were asymptomatic, and the shunts disappeared spontaneously. The third case involved several shunts and an aberrant medial portal vein. This patient developed heart failure and died after surgery. color Doppler sonography was useful in the diagnosis and follow-up of the shunts in all 3 cases. ( info)

6/101. Intrahepatic spontaneous portosystemic venous shunt: value of color and power Doppler sonography.

    Spontaneous portosystemic venous shunts (SPVSs) within the hepatic parenchyma are rare. Fewer than 50 cases have been reported, and most of them were diagnosed by angiography. We present a case of SPVS diagnosed by color Doppler sonography in a 5-year-old boy admitted for bleeding due to rupture of esophageal varices. Conventional color and power Doppler sonography as well as CT showed a large shunt between the posterior branch of the right portal vein and the inferior vena cava. We believe that accurate diagnosis and follow-up of SPVS can be done with color Doppler sonography without resorting to angiography. ( info)

7/101. 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. ( info)

8/101. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

    Controversy exists over the distinction between cardio-facio-cutaneous (CFC) syndrome and noonan syndrome (NS). Several authors have suggested that they are different phenotypes of the same condition. We present the cases of two patients with CFC syndrome to show that it is a distinct condition with a unique combination of findings and a more complex natural history. These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square forehead. Both have heart abnormalities, failure to thrive, and severe feeding problems requiring gastrostomy. They are markedly hypotonic and developmentally delayed. They show signs of frequent eyelid fluttering and have oral aversion, tactile hypersensitivity, and sensory integration abnormalities. keratosis pilaris, the characteristic skin symptom, is also present in both patients. In a review we identified 56 cases of CFC syndrome. We scored these cases by 10 clinical criteria and identified a subset with a specific, severe phenotype distinct from that of NS. The serious neurologic and gastrointestinal complications, in addition to the skin abnormalities and characteristic facies in this group, clearly separate these patients from the mildly affected ones, most of whom appear to have NS or another syndrome. We discuss the differences between the severe CFC phenotype and those of overlapping conditions. We set forth stringent diagnostic criteria for CFC syndrome, the initial step toward identifying a molecular basis for this condition. ( info)

9/101. 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. ( info)

10/101. The role of laparoscopy in the diagnosis and treatment of intestinal duplication in childhood. A report of two cases.

    In children, the diagnostic approach for cystic abdominal tumors (e.g., intestinal duplication) usually includes CT scan, ultrasound (US), and MRI. In small children and babies, the diagnosis is often made by laparotomy. We present our preliminary experience with laparoscopic-assisted surgery (LAS) in two girls. Both children underwent US as the diagnostic approach using imaging techniques. If an intraabdominal mass was identified as cystic or solid, the second step was diagnostic laparoscopy with LAS. One of the girls, a 9-year-old, had a history of appendectomy and abdominal cramps. US revealed a cystic structure in the right lower quadrant. laparoscopy showed an intestinal duplication, which was mobilized; a segmental small bowel resection was then performed. The second girl, a (6-month-old,) had an antenatal diagnosed cystic mass. A small bowel duplication was found laparoscopically, completely mobilized and excised, and harvested through a small umbilical incision. The postop course was uneventful. In former times, transverse laparotomy and Pfannenstil incision were the most common surgical approaches. LAS combines an excellent means of exploration with the simultaneous performance of definitive surgery. Perfect cosmetic results can be achieved even in children with rare pathology. ( info)
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