1/22. Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21.Alveolar capillary dysplasia (ACD) has been described in conjunction with a number of congenital abnormalities. The case reported here was noted in utero to have duodenal atresia and a partial atrioventricular canal defect and a provisional diagnosis of trisomy 21 was considered. A fetal blood sample showed a normal karyotype. The diagnosis of ACD was made at post-mortem following a neonatal death on the tenth day. This case further highlights the range of congenital abnormalities that may be present in cases of ACD that may mimic other conditions, including trisomy 21, on antenatal scan. However, the absence of congenital anomalies, even in the same family, would not exclude the diagnosis of ACD.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/22. prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.A prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
3/22. Aortopulmonary collateral arteries in a child with trisomy 21.We describe an infant born prematurely at 30 weeks gestation with Down's syndrome who became dependent on oxygen at 3 weeks of age after an uneventful initial neonatal period. There had been no evidence of bronchopulmonary dysplasia. An isolated aortopulmonary collateral artery of moderate size was mistakenly diagnosed as persistent patency of the arterial duct on echocardiography, and subsequently successfully occluded using two coils with an excellent clinical result. To the best of our knowledge, this is the first description of a congenital aortopulmonary collateral artery in a symptomatic infant with Down's syndrome and no evidence of bronchopulmonary dysplasia. We discuss the possible etiologies of these collateral arteries. It is important to include aortopulmonary collateral arteries in the differential echocardiographic diagnosis of an arterial duct.- - - - - - - - - - ranking = 0.4keywords = dysplasia (Clic here for more details about this article) |
4/22. Midline developmental anomalies in down syndrome.Infants with down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases. Cardial sonography revealed a ventricular septal defect and mild pulmonary stenosis. Cranial magnetic resonance imaging demonstrated a general but infratentorial stressed brain atrophy with widening of the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular hypotonia and developed severe motor and mental retardation, accompanied by microsomia and generalized epileptic seizures. At age 8 months, he died of sudden nocturnal respiratory and cardiac failure. The peculiarity of this case is the combination of down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative encephalopathy. There are no previous reports of this combination, but there are genetic links between down syndrome and midline defects concerning the drosophila single-minded (sim) gene. The expression pattern of the human sim corresponding gene suggests that it might be involved in the pathogenesis of midline defects in down syndrome.- - - - - - - - - - ranking = 0.4keywords = dysplasia (Clic here for more details about this article) |
5/22. Acquired trisomy 21 and distinct clonal evolution in acute megakaryoblastic leukaemia in young monozygotic twins.An intrauterine origin of childhood acute lymphoblastic leukaemia (ALL) was proven by the identical clonotypic gene rearrangement in the concordant leukaemias of monozygotic twins, arising from a single clonogenic progeny. The monozygotic twins, presented at the age of 22 months with acute megakaryoblastic leukaemia (AML-M7) in one and myelodysplasia transformed to AML-M7 in the other. Leukaemic cells in both twins carried trisomy 21 and additional different clonal evolution changes of del(20q) in the first twin and trisomy 8 in the second. AML-M7 of late infancy with trisomy 21 may be included in the leukaemias of intrauterine origin, possibly a result of genotoxic insult.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
6/22. Acute hemiplegia and cortical blindness due to moya moya disease: report of a case in a child with Down's syndrome.We are reporting what we believe to be the first case of moya moya disease (hemiplegia associated with supraclinoid carotid stenosis and multiple cerebral telangiectasia) in a child with Down's syndrome. On cerebral angiography, multiple collateral vessels and rete mirabile (anastomosis of meningeal vessels with internal cerebral vessels) were noted, in addition to the supraclinoid carotid stenosis. Computerized tomography revealed nonobstructive hydrocephalus and findings consistent with multiple vascular insults or infarcts. It is not clear whether moya moya disease represents a true disease entity (congenital arterial dysplasia) or is a syndrome caused by nonspecific vascular reaction. Since abnormal vascular morphology has previously been described in children with trisomy 21, we suggest that the presence of these two disease entities may not be coincidental. It may represent a genetic predisposition in Down's syndrome toward vascular abnormalities, with variable expressivity which manifested itself in this case by abnormalities in the cerebral circulation.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
7/22. Vascular dysplasia in down syndrome: a possible relationship to moyamoya disease.The brain of a child with down syndrome (DS) and vascular abnormalities is described. Neuropathological examination showed a large cerebral infarction. In the circle of willis there was hypoplasia of the left middle and posterior communicating cerebral arteries, and microscopically there was thickening of intima and focal disruption of internal elastica in some areas of the circle of willis. Several reports suggest that the incidence of moyamoya disease is higher in children with DS than in other children. The high incidence of congenital heart disease in DS suggests an abnormality of vascular development that may manifest intracranially as a structural vascular defect, creating a vulnerability to unknown factors important in the pathogenesis of the moyamoya abnormality.- - - - - - - - - - ranking = 0.8keywords = dysplasia (Clic here for more details about this article) |
8/22. Primary intimal fibroplasia in a child with Down's syndrome.A 14-year-old girl known to have trisomy 21 and who came to us with weight loss followed by hypertension proved to have diffuse arterial dysplasia involving the intimal layer (primary intimal fibroplasia). This is a rare cause of elevated blood pressure in children and has not been previously reported in a child with Down's syndrome. Unusual features of this case also include the widespread distribution of the lesions limited to the large muscular distributing arteries, the rapidly progressive course, and the predominance of abdominal signs and symptoms.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
9/22. IgG-associated mesangial glomerulonephritis in a patient with down syndrome.BACKGROUND: patients with down syndrome have a variety of urinary tract abnormalities including obstructive hydronephrosis, dysplasia, reflux nephropathy and glomerular lesions. However, primary glomerulonephritis with prominent IgG deposits has not been reported previously in this syndrome. CASE REPORT: A 17-year-old girl with down syndrome presented with proteinuria and chronic renal insufficiency. A percutaneous renal biopsy revealed prominent IgG deposition without IgA or IgM deposits in the absence of an identifiable autoimmune disorder, or any other etiologic factors known to cause secondary IgG-associated glomerulonephritis. CONCLUSIONS: The glomerular lesion identified in the present case demonstrates a distinct entity that further expands the spectrum of renal disease known to occur in down syndrome. Early detection of renal disorder in down syndrome may prevent or slow down the progression.- - - - - - - - - - ranking = 0.2keywords = dysplasia (Clic here for more details about this article) |
10/22. Alveolar capillary dysplasia in an infant with trisomy 21.We present a case of an infant with down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy 21. In addition to the many reasons for pulmonary hypertension that occur in children with trisomy 21, alveolar capillary dysplasia may have to be included in the differential diagnosis although it appears to be a rare association.- - - - - - - - - - ranking = 1.4keywords = dysplasia (Clic here for more details about this article) |
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