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)

Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.
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PMID:MR and CT imaging in the Dyke-Davidoff-Masson syndrome. Report of three cases and contribution to pathogenesis and differential diagnosis. 1002 85

A 32-year-old man with hemiconvulsions, hemiplegia, epilepsy (HHE) syndrome is described. He was well developed with a normal pregnancy and delivery, but at age 10 months, he had status epilepticus during a febrile illness. Thereafter, he was noted to have left hemiparesis and mental retardation with recurrent hemiconvulsions. Magnetic resonance (MR) images showed atrophy and degeneration of the right cerebral cortex and white matter, homolateral thalamus, caudate nucleus, and hippocampus, with hyperintensities in both T2-weighted (TR/2200, TE/90) and proton (TR/2200, TE/30) images. There were also slight bilateral cerebellar atrophies. Quantitative single photon emission computed tomographic (SPECT) images using technetium-99m-ethyl cysteinate dimer (99mTc-ECD) revealed markedly reduced cerebral blood flow (CBF) in the right cerebral hemisphere, homolateral thalamus, caudate nucleus and bilateral cerebellum. Bilateral putamen and the medial occipital lobe showed normal findings on MR images and normal regional CBF in SPECT images. We suppose these selective neuronal injures in this case of HHE syndrome will be mainly due to histotoxic factors in epileptic brain damage.
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PMID:[Neuroimaging findings of hemiconvulsions, hemiplegia, epilepsy (HHE) syndrome]. 1039 81

The severity of the disability and complications was evaluated at 6 years of age in 202 cases of cerebral palsy (CP) in Shiga Prefecture (69 with spastic diplegia, 62 with tetraplegia, 33 with hemiplegia, 23 with the dyskinetic type and 15 with the ataxic type) born between April 1977 and March 1987. The degree of gross motor disability differed among the clinical types, being mild in 45%, moderate in 17%, and severe in 39%. Gross motor disability was generally correlated with mental retardation, with some exceptions. Some non-ambulatory cases exhibited a normal or subnormal mentality, and most of such cases had been preterm infants with spastic diplegia. Most cases with mild gross motor disability and severe or moderate mental retardation had been term infants. Forty-eight percent suffered from epilepsy (25% in spastic diplegia, 86% in tetraplegia, 45% in hemiplegia, 39% in the dyskinetic type and 13% in the ataxic type). Microcephaly was noted in 35% (66% in tetraplegia and about 20% in other types).
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PMID:[A clinical study of cerebral palsy in Shiga; 1977-1986--II. Severity of the disability and complications in various types of cerebral palsy]. 1042 83

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.
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PMID:CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 1106 Dec 67

This article deals with the clinical profile of children with cerebral palsy and epilepsy, and to study the clinical predictors of response to anti-epileptic drugs. It is a prospective hospital based follow-up study. All the children who presented with cerebral palsy and history of seizure (other than neonatal seizures) over a period of one year were included. Seizures were classified according to ILAE classification. An EEG was obtained in all cases. Neuroimaging was done in all patients. Eighty-five patients were studied and followed for minimum of 12 months. Perinatal factors accounted for 62 (72.3%) cases. The motor deficits seen were quadriparesis (n = 64), hemiplegia (n = 12) and diplegia (n = 9). Associated mental retardation was seen in 80.9% patients with quadriparesis. A predominance of generalised epilepsy was seen with generalised tonic clonic seizures (32.9%) followed by mycolonic seizures (30.6%) and localisation related epilepsy (24.7%). The patients with quadriparesis were more likely to have generalised epilepsy and 52.4% of them required two or more anti-epileptic drugs for control of seizures. Patients with hemiplegia had localisation related epilepsy in 83.3% of cases. On multivariate analysis presence of quadriparesis, microcephaly, mental retardation and myoclonic epilepsy were found to predict the poor response to AED. Epilepsy in patients with cerebral palsy is of severe nature and difficult to control. Presence of quadriparesis, mental retardation and myoclonic seizures was predictive of poor response to anti- epileptic drugs.
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PMID:Epilepsy in children with cerebral palsy. 1128 76

Forty-one patients with vascular congenital hemiplegia and intractable epilepsy were reviewed. Most had severe hemiparesis, mental retardation, porencephaly, and focal epilepsy. Thirty-three were considered surgical candidates and 25 underwent surgery. Seizure freedom and significant seizure reduction were achieved in 12 of 13 patients after functional hemispherectomy, 4 of 6 after temporal lobectomy, 2 of 2 with extratemporal focal resections, 1 of 3 with corpus callosotomy, and 1 with porencephalic cyst drainage.
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PMID:Intractable epilepsy in vascular congenital hemiparesis: clinical features and surgical options. 1210 22

To study the spectrum of epilepsy in children with cerebral palsy, 105 consecutive children with cerebral palsy and active epilepsy, between 1 and 14 years of age, were studied prospectively. A detailed history and examination, electroencephalography (EEG), and computed tomography (CT) were done in all cases. The social quotient was assessed using the Vineland Social Maturity Scale. A retrospective cohort of 452 cases of cerebral palsy was studied to find the prevalence of epilepsy in cerebral palsy. A control group of 60 age-matched children with cerebral palsy but no epilepsy was also studied for comparison of the social quotient. Of the 105 children, 65 were male, 40 of 105 (38%) had a history of birth asphyxia. The mean age of onset of seizures was 18.9 months; 64 (60.95%) had seizure onset before 1 year of age. Children with myoclonic seizures (P < .05) and infantile spasms (P < .01) had seizure onset significantly early in life. Generalized seizures were the most common, followed by partial seizures, infantile spasms, and other myoclonic seizures. Seizures were controlled in 45 (58.1%) children, and polytherapy was required in 40 children. EEG and CT abnormalities were seen in 70.5% and 61% of the children. Seizure control was achieved in 74% of the patients with a normal to borderline social quotient compared with 48.7% with a social quotient less than 70. Social quotient values had a positive correlation with age of onset of seizures (P < .01) and with better control of seizures (P < .01). Of the cohort of 452 children, 160 (35.4%) had epilepsy. The maximum incidence (66%) was seen in children with spastic hemiplegia, followed by quadriplegia (42.6%) and diplegia (15.8%). Epilepsy in cerebral palsy is seen in about one third of cases; it is often severe and difficult to control particularly in children with mental retardation.
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PMID:Epilepsy in children with cerebral palsy. 1273 42

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.
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PMID:Encephalotrigeminal angiomatosis. 1496 51

Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. Brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.
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PMID:Hereditary porencephaly: clinical and MRI findings in two Dutch families. 1502 74

Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterised by attacks of hemiplegia and mental retardation. AHC has often been associated with migraine. Previously, we have excluded the involvement of the familial hemiplegic migraine (FHM) CACNA1A gene in four patients with AHC. A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase. We performed a mutation analysis of the ATP1A2 gene in six patients, using direct sequencing, but found no mutations in any of the 23 exons. Other cerebral ion channel genes remain candidate genes for AHC.
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PMID:Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. 1553 63


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