Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Acute hemiplegia and cortical blindness due to moya moya disease: report of a case in a child with Down's syndrome. 14 47

Moya-Moya disease has been associated to a number of disease entities including Down syndrome. Initial clinical manifestations in our patient were alternating lateralizing seizures with sudden onset hemiparesis. Ct scan demonstrated several infarcts in different stages of evolution, in the territory of left middle cerebral artery. Single digital subtraction angiography showed bilateral occlusion, predominantly on the left side of the supraclinoid portion of the interna carotid arteries with formation of collateral circulation in the diencephalic territory. The association of Moya-Moya disease and Down syndrome is not fortuitous and it is probably due to a congenital vascular dysplasia. It should be suspected in children with trisomy 21 (with or without congenital heart disease) who presents with alternating hemiplegia and convulsions or acute hemiplegia.
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PMID:[Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Report of a case associated with Down's syndrome]. 228 71

An 11-year-old girl with Down syndrome is reported with moyamoya syndrome; she presented with chorea and mental regression, but had no hemiplegia or convulsions. Magnetic resonance imaging and magnetic resonance angiography were valuable for diagnosis of moyamoya syndrome. It is suggested that moyamoya syndrome be considered as a possible cause of involuntary movements in Down syndrome patients.
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PMID:Moyamoya syndrome in a patient with Down syndrome presenting with chorea. 829 17

Secondary Moyamoya disease, also known as Moyamoya syndrome has been rarely associated with Down syndrome. In pediatric patients, the usual presentation is that of ischemic stroke. Here is reported a 4-year-old child with Down syndrome and Moyamoya syndrome who presented with acute-onset right hemiplegia. A high index of suspicion is necessary to make the diagnosis.
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PMID:Moyamoya syndrome in a child with down syndrome. 1607 50

We report a now 13-year-old male with trisomy 21, hypothyroidism, and insulin-dependent diabetes who developed acute hemiplegia due to the antiphospholipid antibody syndrome (APS) at age four. The risks of long-term anticoagulation were initially considered to be high; hence, he was treated with monthly infusions of intravenous immunoglobulin (IVIG) at 2 g/kg for 2 years and then every other month for 7 years. Antiphospholipid antibodies were no longer detectable within 6 months and have continued to be negative. There was no clinical deterioration or further changes on magnetic resonance arteriography over 7 years. IVIG may be an alternative therapeutic choice for children with APS who are not candidates for conventional anticoagulation.
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PMID:Long-term treatment of antiphospholipid syndrome-associated cerebral arterial thromboses with intravenous immunoglobulin: a case report. 1632 92

Visual information is believed to be processed through two distinct, yet interacting cortical streams. The ventral stream performs the computations needed for recognition of objects and faces ("what" and "who"?) and the dorsal stream the computations for registering spatial relationships and for controlling visually guided actions ("where" and "how"?). We initially proposed a model of spatial deficits in Williams syndrome (WS) in which visual abilities subserved by the ventral stream, such as face recognition, are relatively well developed (although not necessarily in exactly the same way as in typical development), whereas dorsal-stream functions, such as visuospatial actions, are markedly impaired. Since these initial findings in WS, deficits of motion coherence sensitivity, a dorsal-stream function has been found in other genetic disorders such as Fragile X and autism, and as a consequence of perinatal events (in hemiplegia, perinatal brain anomalies following very premature birth), leading to the proposal of a general "dorsal-stream vulnerability" in many different conditions of abnormal human development. In addition, dorsal-stream systems provide information used in tasks of visuospatial memory and locomotor planning, and these systems are closely coupled to networks for attentional control. We and several other research groups have previously shown deficits of frontal and parietal lobe function in WS individuals for specific attention tasks [e.g., Atkinson, J., Braddick, O., Anker, S., Curran, W., & Andrew, R. (2003). Neurobiological models of visuospatial cognition in children with Williams Syndrome: Measures of dorsal-stream and frontal function. Developmental Neuropsychology, 23(1/2), 141-174.]. We have used the Test of Everyday Attention for Children (TEA-Ch) which aims to attempt to separate components of attention with distinct brain networks (selective attention, sustained attention, and attention control-executive function) testing a group of older children with WS, but this test battery is too demanding for many children and adults with WS. Consequently, we have devised a new set of tests of attention, the Early Childhood Attention Battery (ECAB). This uses similar principles to the TEA-Ch, but adapted for mental ages younger than 6 years. The ECAB shows a distinctive attention profile for WS individuals relative to their overall cognitive development, with relative strength in tasks of sustained attention and poorer performance on tasks of selective attention and executive control. These profiles, and the characteristic developmental courses, also show differences between children with Down's syndrome and WS. This chapter briefly reviews new research findings on WS in these areas, relating the development of brain systems in WS to evidence from neuroimaging in typically developing infants, children born very preterm, and normal adults. The hypothesis of "dorsal-stream(s) vulnerability" which will be discussed includes a number of interlinked brain networks, subserving not only global visual processing and formulation of visuomotor actions but interlinked networks of attention.
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PMID:From genes to brain development to phenotypic behavior: "dorsal-stream vulnerability" in relation to spatial cognition, attention, and planning of actions in Williams syndrome (WS) and other developmental disorders. 2148 94