1/17. Histopathologic study of presumed parafoveal telangiectasis.PURPOSE: To report the postmortem histopathologic features that closely resemble the clinical features of parafoveal telangiectasis. methods: light and electron microscopy. RESULTS: Histopathologic features included macular edema; telangiectatic vessels; retinal, subretinal, and superficial retinal neovascularization; retinal pigment epithelial hyperplasia around neovascular aggregates; retinal-choroidal vascular anastomosis; and superficial pigmented cells with lipofuscin. CONCLUSION: The postmortem histopathologic findings in a 36-year-old woman with down syndrome and other systemic conditions correlate with features noted in previous reports of presumed parafoveal telangiectasis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/17. Unilateral middle cerebral artery stenosis in an adult with Down's syndrome--case report.A 29-year-old male with Down's syndrome presented with severe headache and vomiting. Computed tomography demonstrated subarachnoid hemorrhage. Left carotid angiography showed severe stenosis of the middle cerebral artery 2 cm distal to its origin, as well as abnormal hyper-vascularization near the stenosis site similar to that seen in moyamoya disease. Right carotid angiography showed no abnormalities. However, slight stenosis of the distal part of the bilateral vertebral arteries was noted. There was no aneurysm. We judged that the subarachnoid hemorrhage had been caused by rupture of the moyamoya-like vessel. Some patients with Down's syndrome have anatomical vascular abnormality and vascular fragility. The cerebral vascular abnormality found in this case may be part of the systemic vascular abnormalities associated with Down's syndrome. The vascular changes in some adult patients with Down's syndrome may be a sign of premature aging, and long-term studies with periodic vascular examination of patients with Down's syndrome need to be performed.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/17. prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/17. Benign isolated fibrohistiocytic tumor arising from the central nervous system. Considerations about two cases.Benign fibrous histiocytomas (BFHs) are tumors with fibroblastic and histiocytic components without histological anaplasia. Intracerebral lesions are exceptional and to our knowledge a spinal location was not yet described. We describe 2 cases of BFHs of the neural axis: the first, a 22-month-old boy with Down's syndrome, presented with a paraparesis and the magnetic resonance (MR) of the spine disclosed an intradural extramedullary, thoracic mass, totally resected; the second, a 13-year-old boy with left partial motor seizures, in whom the MR of the brain showed an intracerebral, right frontal tumor, also surgically removed. Both patients are free of recurrence, 6 years and 15 months after surgery, respectively. Histological examination and immunoreactivity for vimentin and histiocytic markers favored the diagnosis of BFH. It is likely that these tumors may originate from spinal dura mater mesenchymal stem cells and from the intracerebral perivascular pial sheath or the brain vessel walls themselves, respectively. Other benign, isolated, intracranial fibrohistiocytic neoplasms, namely the juvenile xanthogranuloma, can harbor a clinical, morphological and immunohistochemical profile overlapping the one of the BFH. Intracranial germ cell tumors may be associated with Down's syndrome, although harboring an unusual, non-pineal and non-chiasmatic location. One can speculate that a similar, still unknown genetic mechanism responsible for this association, could also induce the growth of other type of tumors in patients with this syndrome. BFHs should be added to the differential diagnosis of intracerebral or spinal dural attached tumors. Furthermore, we propose to name these intracranial tumors "benign isolated fibrohistiocytic tumors of the CNS".- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/17. moyamoya disease and down syndrome: case report and review of the literature.We present the case of a 29-year-old woman with down syndrome who developed bilateral frontal ischemic stroke. cerebral angiography demonstrated an occlusion of the both supraclinoid internal carotid arteries associated with dilated collateral vessels, consistent with moyamoya disease. We review the clinical and radiological features of moyamoya disease associated with down syndrome and discuss a few major physiopathologic hypotheses to explain this association.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/17. Are the strokes in moyamoya syndrome associated with down syndrome due to protein c deficiency?Moyamoya syndrome has occasionally been seen in association with down syndrome. We report a child with moyamoya syndrome and down syndrome who was admitted with repeated episodes of strokes; his magnetic resonance imaging and magnetic resonance angiography findings confirmed the presence of occlusive cerebrovascular disease with basal collateral vessels. His protein C levels were significantly decreased during the stroke. Complete clinical recovery was seen during follow-up. This raises the possibility of a link between protein c deficiency and down syndrome with moyamoya syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/17. Acute two-vessel coronary closure in a patient with Down's syndrome.Myocardial infarctions are rare in patients with Down's syndrome. This paper reports an unusually aggressive presentation of two-vessel simultaneous coronary occlusion during an intended percutaneous intervention. Since survival in patients with Down's syndrome is improving, encounters with late (and perhaps unusual) sequelae of coronary artery disease are expected to increase.- - - - - - - - - - ranking = 5keywords = vessel (Clic here for more details about this article) |
8/17. 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 = 3keywords = vessel (Clic here for more details about this article) |
9/17. Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for down syndrome.BACKGROUND: A monochorionic-diamniotic placenta (MCDAP) is rare in dizygotic (DZ) twinning. All reported cases have been documented in pregnancies achieved by the induction of ovulation alone or during the IVF cycle. methods AND RESULTS: We report a spontaneous pregnancy in a 39-year-old patient with evidence of MCDAP in DZ twins, discordant for trisomy 21. The first and second-trimester sonographic scans indicated male twins with MCDAP. amniocentesis, performed because of advanced maternal age, revealed a normal karyotype in one fetus, and trisomy 21 in the other. Molecular studies, performed in order to confirm the zygosity and chorionicity, demonstrated that the fetuses were DZ. In order to identity the affected twin, a detailed sonographic examination was repeated, but no abnormal findings associated with down syndrome were demonstrated in any of the fetuses. Therefore, umbilical cord blood samples were obtained from both fetuses. Chromosomal analysis revealed in both fetuses two cell lines: a normal cell line of 46,XY and a 47,XY, 21 cell line, in 65 and 80% of the cells, respectively. This result was independently confirmed by both FISH and G-banding. dna extracted from both cord blood samples demonstrated an admixture of two distinct genotypes in each sample. CONCLUSIONS: We propose that this case represents a monochorionic-dizygotic twin pregnancy with blood chimerism. The most plausible mechanism underlying this phenomenon is placental fusion early in pregnancy, resulting in an architecturally single placenta originating from two distinct zygotes. The newly formed blood vessels created anastomoses between the DZ twins and allowed reciprocal blood chimerism between the normal and the trisomic twin.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
10/17. optic disk elevation in Down's syndrome.Of five children who had Down's syndrome with optic nerve head elevation, without associated intracranial lesions, three underwent enhanced computed tomography for which no abnormalities were found. Partial, complete, or intermittent resolution of the optic disk elevation occurred in three children. In none of the children were retinal vessel dilation, splinter hemorrhages, optic nerve drusen, subsequent optic atrophy, or apparent visual loss noted. All of the children were hyperopic, but only one child had a hyperopia of greater than 3.50 diopters.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
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