Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia, athetosis and muscle hypotonia with loss of deep tendon reflexes were discovered on clinical examination. By school age ophthalmoplegia and hearing loss were diagnosed, while sensory neuropathy developed by adolescence. In addition, an acute crisis with status epilepticus was a late manifestation. We found a marked decrease in sensory nerve condition velocities, a progressive loss of myelinated fibers in sural nerve specimen, and abnormal background activity in EEG with advancing age. The main finding in neuroradiological investigations was cerebellar atrophy. The occurrence of the disease in siblings and lack of manifestations in parents indicate recessive inheritance.
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PMID:Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. 813 12

We present six adult patients from three separate families, with a remarkably uniform heredo-ataxic syndrome, developing in three stages and ending in early death. The initial stage is determined by severe sensory neuropathy. The second stage is characterized further by progressive external ophthalmoplegia (PEO), probably caused by ocular myopathy, and progressive ataxia. During a short last stage there is epilepsia, and particularly myoclonic status epilepticus, of which four patients died unexpectedly. Sural nerve biopsies showed severe loss of myelinated fibres in a rather early stage of disease. Skeletal muscle biopsies (and a specimen of ocular muscle) revealed ragged-red fibres. Autopsy examination in two patients revealed multisystemic involvement of the nervous system, with, in particular, degeneration of spinal dorsal columns and spinocerebellar tracts. Pedigree data were compatible with an autosomal recessive disorder. Additional findings, particularly elevation of CSF lactate, suggested mitochondrial cytopathy as an essential feature of the multisystem degeneration in these patients.
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PMID:Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. 867 7

Cisplatin induces mainly a peripheral sensory neuropathy, but occasionally may also induce an encephalopathy with or without seizures. We describe the clinical signs and symptoms of cisplatin encephalopathy. The clinical events in three patients that developed seizures and encephalopathy with focal signs are described. Two patients completely recovered, one patient developed a focal status epilepticus, refractory to antiepileptic treatment, and died due to ongoing seizures. Post-mortem examination of the central nervous system in this patient showed an ischemic lesion in the left temporal area and mild gliosis of the white matter. One patient was rechallenged with cisplatin after which he developed a second episode of encephalopathy. We conclude that physicians using cisplatin chemotherapy should be aware of this rare complication.
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PMID:Cisplatin-induced encephalopathy and seizures. 1285 86

We report a 68-year-old woman who developed refractory non-convulsive generalized status epilepticus secondary to anti-Hu antibodies, detected by immunofluorescence and confirmed by Western immunoblotting. The patient presented with rapidly evolving impairment in consciousness and electroencephalographic evidence of lateralized pseudoperiodic sharp-wave discharges. Ataxia and sensory neuropathy developed within the first two weeks. To our knowledge, this is the first description of a very rapidly progressive non-convulsive status epilepticus of paraneoplastic origin. Serum anti-Hu antibodies deserve to be considered among the investigations required in the evaluation of rapidly progressive epileptic syndromes even when little or no imaging abnormalities are found.
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PMID:Anti-Hu-associated paraneoplastic limbic encephalitis presenting as rapidly progressive non-convulsive status epilepticus. 1664 50