Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mild overdosage of phenytoin produces reversible cerebellar symptoms (nystagmus, double vision, dysarthria and ataxia). Several case reports suggest that relatively mild and relatively short intoxication can lead to cerebellar degeneration. We observed 11 patients who had episodes of abnormally increased serum levels, most of which developed clinical signs of cerebellar dysfunction. All of these patients were examined with a 1.5-tesla whole-body system (Magnetom, Siemens). Five patients had normal cerebellar structures, although 3 of them had a history of clinical intoxication and all had at least one episode of increased serum level of diphenylhydantoin. The remaining 5 had moderate to severe cerebellar atrophy. Two of them never experienced signs of clinical intoxication. There was no correlation between degree of atrophy and severity of clinical symptoms and elevation of serum DPH levels. There was no correlation between cerebellar atrophy, duration of epilepsy and frequency of seizures.
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PMID:Phenytoin overdosage and cerebellar atrophy in epileptic patients: clinical and MRI findings. 800 16

Two half-brothers and their mother had symptomatic pyruvate dehydrogenase complex deficiency. The infants had severe congenital lactic acidosis, seizures, and apneic spells and died at the ages 3 and 4 months. The mother was less symptomatic with mental retardation, truncal ataxia, and dysarthria. The residual pyruvate dehydrogenase activities in cultured skin fibroblasts from the 2 infants and their mother were 7, 15, and 10% of control values. Immunoblot analysis showed negligible amounts of E1 alpha and E1 beta subunits of the complex. Northern blot analysis for the E1 alpha subunit showed normal results. In the 2 sons, complementary DNA sequence analysis revealed a cytosine to thymine mutation in exon 4, resulting in a change of arginine 127 to tryptophan in the E1 alpha subunit. Restriction enzyme analysis of the polymerase chain reaction product representing exon 4 of the E1 alpha gene revealed that the mother was a heterozygotes. Complementary DNA restriction analysis and methylation analysis of the X chromosome DXS255 loci revealed skewed activation of the mutant allele, consistent with the deficient pyruvate dehydrogenase activity in the mother's fibroblasts. The milder maternal phenotype is consistent with variable X-inactivation patterns in different organs of female heterozygotes.
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PMID:Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. 802 67

Advances in neuroimaging techniques have enabled the recognition of developmental malformations of the brain during life. Careful correlation of clinical and imaging features has identified several new syndromes. We have studied 31 patients with a congenital neurological syndrome characterised by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian abnormalities on imaging studies. All patients had diplegia of the facial pharyngeal, and masticatory muscles, of variable severity. Some patients had slight dysarthria, whereas others were unable to speak. 85% of patients had mental retardation, ranging from mild to severe. Epilepsy was present in 27 (87%) and commonly consisted of atypical absence, atonic/tonic, tonic-clonic seizures, and, less frequently, partial attacks. Seizures were poorly controlled in 55%. Magnetic resonance imaging showed bilateral perisylvian cortical malformations consistent with polymicrogyria, confirmed at necropsy. Division of the corpus callosum in several patients resulted in seizure improvement. This congenital bilateral perisylvian syndrome can be clinically diagnosed and confirmed by imaging studies. Further studies are necessary to elucidate its cause.
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PMID:Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. 809 39

The amino acids L-glutamate and L-aspartate have been shown to be excitatory neurotransmitters in mammalian central nervous systems. Antagonists acting selectively at excitatory amino acid receptors have shown antiepileptic properties in several animal models. We report the results of the first therapeutic trial of the competitive NMDA antagonist, D-CPP-ene (SDZ EAA-494), in eight patients with intractable complex partial seizures. All patients withdrew prematurely because of side-effects, including poor concentration (8), sedation (7), ataxia (6), depression (3), dysarthria (2), amnesia (2) and unilateral choreo-athetosis in a patient with contralateral Sturge-Weber syndrome. Seizures were unchanged in four patients and worse in three. A further patient with apparent improvement in seizures in the first week developed complex partial status epilepticus on withdrawal of DCPP-ene. EEG on treatment (5) or in the immediate post-treatment period (2) showed slowing of background activity and, in five cases, an increase in epileptiform activity. Serum concentrations of DCPP-ene were found to be unpredictable and higher than expected from pharmacokinetic data on normal subjects. There was no clear relationship between serum concentrations and the severity of side-effects. Preliminary experience with DCPP-ene in patients with refractory partial seizures is not promising. Evaluation of related compounds is warranted.
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PMID:The excitatory amino acid antagonist D-CPP-ene (SDZ EAA-494) in patients with epilepsy. 826 15

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

We report the results of 34 patients who underwent corpus callosotomy between 1986 and 1989 with 28-65 months of postoperative follow-up (mean 42 months). Thirty-two patients had mental retardation and 26 had significant behavioral problems. Thirteen patients had total section, 8 had subtotal section with preservation of the posterior half of the splenium, and 13 had section of the anterior two thirds of the callosum. Satisfactory seizure control was achieved in 25 patients (73.5%) Atonic seizures, followed by tonic seizures, generalized tonic-clonic seizures (GTCs), and atypical absence seizures were most improved. Myoclonic and complex partial seizures (CPS) did not improve significantly. No deterioration in seizure status was observed postoperatively. Two patients developed previously unobserved simple seizures and CPS postoperatively, but they were not as disabling as the preoperative seizures. Among the patients with behavioral problems, 81% had significant decrease in aggressiveness, hyperactivity, and/or attention deficit. Patients who underwent total section had interhemispheric disconnection symptoms that improved progressively and did not interfere with daily life. Decreased speech output, dysarthria, and gait dyspraxia occurred after total callosal section and persisted in 5 of the 13 patients. Patients who underwent anterior two thirds or subtotal sections did not have such symptoms. Early postoperative complications consisted of aseptic ventriculitis (5), subdural hematoma (1), and wound infection (4) and resolved without sequelae.
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PMID:Corpus callosotomy in treatment of medically resistant epilepsy: preliminary results in a pediatric population. 840 46

We reviewed the clinical, radiographic, and pathologic features of 15 patients with the acquired immune deficiency syndrome (AIDS) and progressive multifocal leukoencephalopathy (PML). Brain tissue from 10 autopsy and 6 biopsy specimens was studied using: in situ hybridization (ISH) for JC virus (JCV), immunohistochemistry for human immunodeficiency virus (HIV) p24 antigen, and electron microscopy. Thirteen patients presented with focal neurologic deficits, while 2 presented with a rapid decline in mental status. PML was commonly the initial opportunistic infection of AIDS and produced hemiparesis, dementia, dysarthria, cerebellar abnormalities, and seizures. Magnetic resonance imaging was more sensitive than computed tomography in detecting lesions, and often showed multifocal areas of PML. CD4+ T-cell counts were uniformly low (mean 84/mm3), except in 1 patient who improved on 3'-azido-3'-deoxythymidine (AZT). PML involved the cerebral hemispheres, brain stem, cerebellum, and cervical spinal cord. The distribution of brain involvement was consistent with hematogenous dissemination of the virus. In 2 brain specimens, multiple HIV-type giant cells were present within the regions involved by PML. When co-infection by HIV and papovavirus was present, PML dominated the pathological picture. ISH for JCV showed virus in the nuclei of oligodendrocytes and astrocytes. Occasionally there was staining for JCV in the cytoplasm of glial cells and in the neuropil, the latter possibly a correlate of papovavirus spread between myelin sheaths, as seen by electron microscopy. ISH demonstrated more extensive foci of PML than did routine light microscopy.
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PMID:Progressive multifocal leukoencephalopathy in AIDS: a clinicopathologic study and review of the literature. 841 79

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls.
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PMID:Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures. 853 19

Neurological symptoms of transient unsteadiness, dysarthria, dysphasia, dysbasia, transient monoor hemiparesis, hemiparesis, scintillating scotomas, amaurosis fugax, vertigo, dizziness, migraine accompaniments, syncope and seizures were the presenting manifestations of thrombocythemia in various myeloproliferative disorders. Erythromelalgia preceded or followed the neurologic ischemic attacks. The neurologic and ocular attacks usually had a sudden onset, lasted for a few seconds to several minutes and occurred independently or sequentially rather than simultaneously. This clinical syndrome is caused by platelet-mediated ischemic and thrombotic processes in the end-arterial microvasculature and reflects the existence of a platelet dependent and aspirin responsive arterial thrombophilia in thrombocythemia as novel disease entity, which confirms and elucidates Mitchell's hypothesis.
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PMID:Atypical transient ischemic attacks in thrombocythemia of various myeloproliferative disorders. 895 74

A 40-year-old conductor was admitted because of increasing drowsiness and confusion. Two years before admission he had had a first seizure. One year before admission he had a generalized convulsive status epilepticus; the following months he was less able to concentrate. A second status epilepticus was followed by transient weakness of his left arm and a depressed level of consciousness for several weeks. After awakening, he had delusions, and his wife found him demented. In the following months his confusion and drowsiness gradually deteriorated. He had previously had gonorrhoea, an episode of fever and exanthema, and was found to have oligospermia as cause of his infertility. On examination he was disoriented, and he had dysarthria. His left pupil was smaller, but both pupils reacted normally. There was left hemianopia and cerebellar ataxia. CT and MR showed large ventricles and periventricular diffuse lesions in the white matter. CSF examination revealed leucocytosis and increased protein content. Further examination were focussed on serological evidence of syphilis, and finally neurosyphilis was diagnosed. After treatment with penicillin, the patient started to recover.
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PMID:[Clinical judgment and decision making in clinical practice. A music conductor with epilepsy followed by memory disorders]. 921 89


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