Cases reported "Diseases in Twins"

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1/60. Multiple atresias in a low-birth-weight twin.

    This report describes a case of 16 small bowel atresias in a twin who was born at 31 weeks' gestation, weighing 1,690 g. All atresias and intestinal segments of 5 cm or less in length were resected, resulting in nine primary anastomoses, preserving 75% (107 cm) of his initial small bowel length. The baby went home on full oral feedings after 10 weeks. Multiple anastomoses in the low-birth-weight neonate can be tolerated with the functional benefit of maximal bowel length. The time taken to tolerate feedings appears to be independent of the number of anastomoses. Vascular anastomoses associated with monochorionic twinning may place both fetuses at risk of intestinal atresia in the event of an ischemic insult, either concurrently or with the demise of one affecting the other. Prenatal ultrasound scan appears to be useful for monitoring the evolution of intestinal atresia. However, the risks of extreme prematurity preclude the delivery of the affected baby at the time of initial diagnosis, and as yet it is unknown whether early delivery will alter the number, type, or prognosis of multiple atresias.
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2/60. Intracranial malposition of a nasogastric tube following repair of choanal atresia.

    Intracranial penetration during attempted nasogastric intubation is a rare, often lethal occurrence. We report the inadvertent introduction of a nasogastric tube intracranially in a neonate following repair of unilateral choanal atresia. Following manual removal of the tube, the patient made a good recovery.
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3/60. Jejuno-ileal atresia in identical twins: report of a case.

    Small intestinal atresia occurring in twins is extremely rare. The aims of this study are to report a case of identical twins with different types of jejunal atresia, to review six other pairs of twins, and discuss the etiology. Our case was the seventh in which both twins were diagnosed to have jejuno-ileal atresia. Furthermore, they are also only the sixth and seventh patients known to survive. All the other published cases involved identical twins except one. Three pairs had different types of atresia and four pairs did not have any other anomalies. In addition, to date there have been no further indications of any other members of these families being affected with intestinal atresia. Therefore, we conclude that most such cases might be due to environmental influences during gestation.
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4/60. Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin.

    The etiology of sirenomelia sequence is still obscure. The role of maternal diabetes and a vascular steal phenomenon have been discussed [Gurakan et al. (1996) Turk J Pediatr 38:393-397]. Discordant monozygotic twin sirenomelia has been commonly reported but only rarely in dizygotic twins. The family of the presented twins had a high risk of diabetes mellitus. One of the twins has type 1 sirenomelia and the other had only an imperforate anus.
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5/60. Effect of liver transplantation in a twin for biliary atresia on physical development and intellectual performance: report of a case.

    A case of twins, one of whom suffered from biliary atresia, is described herein. Although the patient had been doing well until 11 years of age after previously undergoing a primary hepatic portoenterostomy, she had to then undergo a liver transplantation due to severe refractory cholangitis at 14 years of age. Although the patient's intellectual performance had severely declined due to the progression of her illness for several years, it completely recovered after the liver transplantation. In cases where the physical development in childhood has been well preserved, liver transplantation might therefore offer the chance for a full recovery of deteriorated intellectual performance.
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6/60. Body stalk anomaly in monozygotic twinning: a case report.

    We describe a case of concordant body stalk anomaly in a monozygotic twin. autopsy of the fetus showed abnormalities compatible with the maldevelopment of embryonic folding. Abdominal viscera were in a sac covered by the amnion and were attached directly to the placenta. The anus was not visible and no discernible external genitalia were noted. Other findings included a neural tube defect and a rectal duplication as an enteric cyst. umbilical cord had only one vein and an artery. No abnormalities were found on pathologic examination of the placenta. Although we encountered cases previously with gastroschsis and omphalocele, this was the first case of body stalk anomaly that we recognized as an enteric cyst, which is extremely rare in twins.
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7/60. Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

    We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypoplastic labia minora. Radiographic findings include triphalangeal thumbs and hypoplastic first metatarsals. She has postnatal growth retardation and her development is substantially slower than her twin's. Her clinical course has been complicated by recurrent sinopulmonary infections and pneumococcal bacteraemia. Laboratory evaluation revealed hypogammaglobulinaemia, absent B cells, and a 46,XX karyotype. A review of the literature and the london Dysmorphology database did not produce any recognizable syndromes that match her constellation of findings. She may represent a unique syndrome of unknown etiology.
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8/60. Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning.

    Monozygotic twins with chromosome 22q11 microdeletions offer an ideal situation to observe the association of microdeletion and disrupted cardiovascular patterning. We report monozygotic twins concordant for 22q11.2 microdeletion but discordant for cardiovascular patterning. Both twins showed identical intracardiac defects including tetralogy of fallot with pulmonary atresia. Nevertheless, their great vessel patternings were variable. These twins show that the mispatterning of the great vessels may not correlate with intracardiac morphogenesis. The discordant development of the great vessels, especially in the pulmonary vascular system, has clinical significance for prognosis. The phenotypic variability of cardiovascular anomalies seen in 22q11 microdeletion cannot be explained on the basis of genotypic difference.
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9/60. Residual expression of functional MHC class II molecules in twin brothers with MHC class II deficiency is cell type specific.

    We examined major histocompatibility complex (MHC) class II expression in B cells, peripheral blood monocytes, activated T cells, epidermal langerhans cells, monocyte-derived dendritic cells, dermal microvascular endothelial cells (DMEC) and fibroblasts of twin brothers with MHC class II deficiency. Although residual human leucocyte antigen (HLA)-DR expression was found on a subpopulation of epidermal langerhans cells and a subset of peripheral blood monocyte-derived dendritic cells, the patients' B cells, monocytes and activated T cells were HLA-DR negative. After treatment with interferon-gamma (IFN-gamma), the patients' DMEC expressed HLA-DR but not -DP and -DQ at the protein and mRNA level, whereas IFN-gamma failed to induce HLA-DR expression on dermal fibroblasts. The patients' monocyte-derived dendritic cells were capable of processing and presenting tetanus toxoid to autologous T cells, and patient-derived DMEC induced the proliferation of allogeneic CD4( ) T cells in an MHC class II-restricted fashion, indicating that the observed residual MHC class II surface expression was functional. The findings reported show that the defect encountered in these patients is not necessarily expressed to the same extent in different cell lineages, which is relevant for the understanding of the patients' phenotype and also illustrates that only small amounts of MHC class II are needed to mount a functional cellular immune response in vivo.
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10/60. Unilateral choanal atresia in identical twins: case report and literature review.

    choanal atresia is postulated to be secondary to an abnormality of the rupture of the buccopharyngeal membrane during the embryological period. This condition usually occurs sporadically, but has been described in siblings and successive generations. The genetics remain unclear. We present monozygotic twins with identical findings of unilateral choanal atresia and no other associated anomalies. To our knowledge, this is the first report of such an occurrence.
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