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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Aicardi's syndrome consists of abnormalities of the ocular fundus, myoclonic seizures, mental retardation, and congenital malformations of the brain and vertebral column in females. The pathognomonic chorioretinal lesions were noted on ophthalmologic examination of a 22-month-old girl, observed for 19 months with severe myoclonic seizures and profound mental retardation. Computerized tomography confirmed major malformation of the brain. Roentgenograms showed anterior fusion of two thoracic vertebrae. Electroretinography was normal, but visual evoked responses were abnormal. Only 72 children are known to have this syndrome; no affected siblings have been reported. The absolute sex limitation--all cases have been female--suggests that the disorder is produced by a mutation on one of the X chromosomes, and is nonviable in male conceptuses. These genetic considerations dramatically influence counseling of parents regarding likelihood of occurrence of the syndrome in subsequent offspring.
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PMID:Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies. 41 7

The case of a child is described who at the age of 2 years showed the first evidence of a developing neurological disease. Within a couple of years, profound mental retardation and severe motor deficit with spastic tetraplegia became established. No seizures and no pigmentation of the retina were observed. The condition remained practically unchanged for some 8 years and the patient died at 12 years of age of terminal bronchopneumonia. At autopsy there was conspicuous diffuse atrophy of the brain. The cerebral cortex was particularly involved. Most of the cortical neurons were destroyed and neuroglia showed abundant proliferation. The few remaining neurons contained inclusion material which was identified as lipofuscin. Noticeable cedifferences from the various types of amaurotic idiocies are noted and similarities to a case of lipidosis recently reported from Finland are suggested.
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PMID:An unusual type of infantile lipofuscinosis. 113 10

We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and laboratory studies demonstrated etiologic heterogeneity. Molecular studies detected microdeletions in chromosome band 17p13.3 in six of 44 patients tested, confirming that deletion of all or part of this "critical region" is the cause of ILS in some cases. There were slightly larger deletions in the same region in a majority of patients with Miller-Dieker syndrome. One patient had an apparently balanced, de novo reciprocal translocation with breakpoints at Xq22 and 2p25. Four sibs from two families had a new, autosomal recessive syndrome of ILS with neonatal death. Other causes supported by clinical observations include autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. Those ILS probands in whom no etiology could be established had 41 sibs of whom three were affected, giving an empiric recurrence risk of 7%.
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PMID:Causal heterogeneity in isolated lissencephaly. 162 Mar 49

Three children with profound mental retardation and intractable seizures died at ages 10 months, 3 years, and 7 years, respectively. Complete examination of their brains showed generalized cortical dysplasia, without any major malformation of the external gyral pattern. The neuropathologic features of cortical dysplasia include abnormally thickened cortex with indistinct demarcation of the gray-white matter junction. In many areas, the cortex contained increased numbers of large neurons with disordered cortical lamination. Heterotopic neurons were scattered throughout the white matter with decreased myelination of the underlying white matter. To our knowledge, these cases represent the first fully detailed neuropathologic study of diffuse cortical dysplasia--a newly recognized entity of abnormal neuronal migration.
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PMID:Generalized cortical dysplasia. Clinical and pathologic aspects. 189 61

Aicardi's syndrome occurs in females and is associated with profound mental retardation, agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. We report a distinctive combination of abnormalities which was observed on real-time cranial ultrasound scans of two infants with Aicardi's syndrome. These abnormalities include bilateral prominent cysts in the choroid plexus in conjunction with agenesis of the corpus callosum. Recognition of these radiologic findings may suggest the diagnosis of Aicardi's syndrome in early infancy even prior to the onset of seizures or visualization of chorioretinal lacunae.
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PMID:Neurosonographic features of Aicardi's syndrome. 279 83

Sulfite oxidase deficiency is characterized by severe neurologic dysfunction, dislocation of the lenses, and the accumulation and excretion of inorganic sulfite, thiosulfate, and S-sulfocysteine. We present the clinical, radiologic, and biochemical findings in two patients with this condition. In both, neurologic problems started soon after birth and progressed rapidly to profound mental retardation, microcephaly, blindness, and spastic quadriparesis. Seizures were a persistent problem throughout the course of their illness. The neurologic abnormalities were associated with progressive destruction of brain tissue. We established the diagnosis of sulfite oxidase deficiency by demonstrating the characteristic abnormal metabolites in urine. However, commonly used screening procedures do not detect these compounds, and dislocation of the lenses is usually a late feature of the disease. As a result, the diagnosis may be easily overlooked, especially during infancy. Specific investigations for sulfite oxidase deficiency are indicated for any baby with severe, progressive neurologic disease.
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PMID:Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. 291 98

Four autopsy cases of porencephaly and hydranencephaly were evaluated clinico-pathologically. The patients showed profound mental retardation, convulsive seizures and spastic quadriplegia. The life spans were much shorter in the hydranencephalic cases. Pathologically, the cerebral cortex in the vicinity of the parenchymal defects often showed an abnormal cytoarchitecture, which appeared to be closely correlated with superficial glial proliferation. Several neurofibrillary tangles were found in the nucleus basalis of Meynert and the locus ceruleus in a 23-year-old porencephalic patient, and so-called grumose degeneration of the dentate nucleus in three patients, including a 2-month-old hydranencephalic boy. It is suggested that extensive cerebral defects may cause neuronal degeneration of the subcortical nuclei.
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PMID:Porencephaly and hydranencephaly: a neuropathological study of four autopsy cases. 292 67

We have studied an 8-year-old girl with ornithine transcarbamylase deficiency with many of the manifestations of Rett syndrome. She is profoundly mentally retarded and microcephalic after normal development in early childhood. Seizures, hyperventilation, ataxia, amimia, and "hand wringing" stereotypies are present. The distinguishing characteristic is the history of recurrent episodes of vomiting and hyperammonemic coma. This case points to the possible existence of genocopies of Rett syndrome.
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PMID:A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. 308 94

During analysis of data on 406 severely and profoundly mentally retarded children and their families in Manitoba a marked excess of Canadian Indian children was observed. There was no evidence to suggest that the over-representation by native children was due to an increased propensity of Indian families to institutionalize their children nor were these patients more profoundly retarded or more physically handicapped than the non-Indian children studied. Further analysis showed that Indian children were primarily over-represented in the groups with acquired retardation, autosomal recessive genetic disorders, idiopathic retardation with seizures and idiopathic retardation with malformations or dysmorphic signs. Review of other demographic findings indicated that other factors potentially predisposing to retardation, including low socioeconomic status, illegitimacy, high birth order, poor maternal reproductive history and increased consanguinity, were more common in the histories of native children. Severe and profound mental retardation has been said to occur equally in all strata of society. This evidently was not so in this Canadian population and the Indian child may be at special risk. Health care workers should be aware of possible predisposing factors for retardation in this group if reduction of the incidence of this major problem is to be achieved.
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PMID:A study of institutionalized mentally retarded patients in Manitoba: over-representation by Canadian Indian children. 316 29

A single blind, within-patient clinical study was carried out on sixteen profoundly mentally retarded in-patients. Five of them had primary generalized, four had partial, six secondary generalized and one had mixed epileptic seizures. With the exception of two patients, all had for months or years been on CBZ combined with other anticonvulsive drugs. Eleven cases had received diphenylhydantoin, eight valproate, six had been given phenobarbital and five nitrazepam. Without changing other anticonvulsive therapy, CBZ was replaced by ox-CBZ up to a dosage of 30 mg/kg b.w. in two or three daily doses. The anticonvulsive efficacy of ox-CBZ was considered better than that of CBZ in eight patients. In three cases, CBZ was preferred and in the remaining five no preference could be stated. A desirable psychotropic effect was found in three patients on ox-CBZ. Unwanted side effects occurred in seven patients. Two of them had their first episode of status epilepticus during the trial. Two out of sixteen patients had to discontinue the therapy. One of them experienced several episodes of status epilepticus, and the other patient lost appetite and had to be fed by tube. No signs of hepatitis occurred in any patient. Three patients are still on ox-CBZ, three and a half years from the start of the trial.
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PMID:Oxcarbazepine (GP 47 680) in the treatment of intractable seizures. 326 69


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