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)

The authors describe a case of a 15-year-old girl who presented with a progressive sequence of nocturnal dystonic episodes, generalized seizures, and diurnal dystonic episodes. A diagnosis of nocturnal paroxysmal dystonia has been proposed in view of the association between nocturnal episodes and epileptic seizures, while the diurnal episodes are atypical. Neurophysiological data recorded during critical episodes are reported. A linkage between dystonic attacks and epilepsy is hypothesized.
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PMID:Concurrent nocturnal and diurnal paroxysmal dystonia. 812 72

From 1983 to 1991, 13 patients were identified with a clinical radiologic association characterized by acute or persistent neurologic dysfunction and bilateral lesions in the basal ganglia region demonstrated by ultrasound, computed tomography, or magnetic resonance imaging. Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., dystonia 9, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and seizures in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 cognitive impairment, and 4 died. The outcomes of 2 patients, however, were much better than what was expected from the initial presentation. Based on current and previous reports, the diagnostic approach and classification of patients with neurologic dysfunction and bilateral striatal lesions are presented.
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PMID:Bilateral striatal lesions in childhood. 829 9

A 13-year-old girl developed left partial motor status epilepticus with severe postictal hemiparesis. Magnetic resonance imaging showed a right frontoparietal hyperintense T2 weighted signal. Treated with phenytoin, carbamazepine and phenobarbital, seizures subsided but left choreic-like flinging movements, consistent with hemiballism, presented 2 days later. On phenytoin withdrawal, symptoms gradually remitted with mild residual dystonia at 14 months follow-up. It is speculated that the lesion might have rendered the cortex more susceptible to phenytoin, inducing unilateral toxicity.
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PMID:Hemiballism in a patient with partial motor status epilepticus treated with phenytoin. 833 Jul 55

Paroxysmal choreoathetosis is the essential symptomatology in the following 4 syndromes: (a) paroxysmal kinesogenic choreoathetosis; (b) paroxysmal nonkinesogenic choreoathetosis; (c) supplementary sensorimotor seizures, and (d) paroxysmal nocturnal dystonia. All these syndromes are characterized by similar clinical symptomatology of the paroxysmal events. However, the pathophysiology of the choreoathetotic episodes differs considerably. In the first two syndromes the paroxysms are most probably generated by nonepileptogenic abnormal discharges in the basal ganglia whereas in the third syndrome (supplementary sensorimotor seizures) there is convincing evidence indicating that the pathogenesis is an epileptic process in the cortex. Finally, in the last syndrome (paroxysmal nocturnal dystonia) there is still controversy whether the paroxysms are of an epileptic or nonepileptic nature.
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PMID:Paroxysmal choreoathetosis. 879 Oct 17

The case of a 52-year-old man with an ataxicspastic syndrome associated with dystonia, faciobuccolingual dyskinesias and partial epileptic seizures is reported. Neurological imaging showed aspecific brain stem parenchymal alterations. Cerebellar biopsy revealed calcifications and the accumulation of perivascular acid mucopolysaccharides compatible with a diagnosis of "Calcinosis Nucleorum Cerebri", with the absence of any Ca/P metabolism disturbances or other diseases predisposing to calcium deposits showing it to be sporadic and idiopathic. We fell that this case description is interesting because of some of its particular aspects and that it may help in providing a better nosographic classification of these diseases.
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PMID:Striopallidodentate calcifications: nosographic, neuropathological and clinical proposal. Case report. 879 74

Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, unco-ordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse model for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebellar ataxia II (SCA2) on 12q22-q24. The closely linked markers presented here will facilitate positional cloning of the ji gene.
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PMID:The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3. 881 88

Magnetic motor-evoked potential (MEP) study of patients with the syndrome of delayed posthemiplegic hemidystonia, hemiatrophy, and partial or hemi-seizures ('4-hemi' syndrome) has not been described. Among 35 patients investigated for posthemiplegic movement disorders from February 1988 to January 1995, seven showed '4-hemi' syndrome. Clinical work-up, magnetic resonance images (MRI) and/or computed tomography (CT) were performed in all. Transcranial MEP studies were done in five patients. The remote causes of '4-hemi' syndrome were neonatal stroke, trauma, and encephalitis in infancy. The dystonia may occur as long as a decade after the initial insult. MRI or CT showed destructive lesion in the contralateral putamen (five patients), caudate (four), thalamus (five), and atrophy of the contralateral hemisphere (five). Other associations were porencephalic cyst. Wallerian degeneration, and asymmetric compensatory ventriculomegaly. MEP showed abnormalities in the affected upper limbs in four of five patients. The abnormalities were reduced amplitude of the compound muscle action potential following cortical stimulations with or without temporal dispersion, and with or without prolongation of its latency. The peripheral motor conductions following cervical stimulations were normal. MEP abnormalities may not be related to the hemiatrophy and the size of brain lesion per se. The hemidystonia is static after the second decade of life, and it is often difficult to treat.
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PMID:The syndrome of delayed posthemiplegic hemidystonia, hemiatrophy, and partial seizure: clinical, neuroimaging, and motor-evoked potential studies. 888 90

A rare case of basal ganglionic angioleiomyoma in a 12-year-old girl is reported. She presented with features of raised intracranial tension, multifocal seizures, left hemidystonia and apraxia of eyelid closure. Cranial CT scan showed a large hypodense lesion with an enhancing mural nodule in the region of head of the caudate nucleus on the right side. The lesion was extending to the posterior limb of internal capsule postero-medially and to globus pallidus laterally. Another small, hyperdense, enhancing lesion was seen in the region of globus pallidus on the left side. The right basal ganglionic mass was excised through frontal craniotomy. Histopathological, Immunocytochemical and Ultrastructural examination of the right basal ganglionic mass showed features characteristic of angioleiomyoma. Following surgery the patient improved initially with respect to dystonia but worsened later on. Repeat cranial CT, 20 months after surgery, showed bilateral frontotemporal atrophy without any tumor recurrence while the lesion on the left side remained quiescent.
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PMID:Basal ganglionic angioleiomyoma. 888

In patients with the trisomy 13 syndrome the most commonly encountered brain anomaly is holoprosencephaly, which occurs in approximately 80% of cases. In trisomy 13 patients without holoprosencephaly, previously reported anomalies include callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and cerebellar dysplastic changes such as vermian hypoplasia and dysplastic cortices. Dysplasia of the cerebral cortex, however, has not been reported before. We describe a newborn with bilateral, dysplastic cortices at the perisylvian and rolandic regions. These dysplastic cortices probably accounted for the clinical findings of seizures, oromotor dysfunction, dystonia flexion contractures in the hands, which were consistent with a recently described syndrome labelled as the "congenital bilateral perisylvian syndrome".
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PMID:Bilateral, perisylvian and rolandic cortical dysplasia in trisomy 13 syndrome. 910 9

A 15-year-old girl with a former clinical diagnosis of cerebral palsy was found to have isolated deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) on gas chromatography-mass spectrometry (GC/MS) analysis and enzyme determination. Her symptoms included marked growth retardation from birth, profound mental retardation, tonic seizures, rigospastic quadriplegia with opisthotonic dystonia, gastroesophageal reflux with poor esophageal peristalsis, and recurrent episodes of aspiration pneumonia. Brain MRI revealed marked brain atrophy, involving both the gray and white matter. Although she did not exhibit acute metabolic decompensation or acute encephalopathy, her neurological symptoms continuously worsened. This patient is the oldest among reported cases of MCC deficiency who had symptoms at birth, and this case may have the severest sequelae of the longest known natural course of this inborn error of metabolism.
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PMID:Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. 918 84


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