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

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

Three siblings presented with a progressive neurological disorder beginning in the third decade of life and characterised by palatal myoclonus, nystagmus, bulbar weakness and spastic tetraparesis. There was no evidence of intellectual deterioration or seizures. CT scan showed marked brainstem atrophy in two patients and basal ganglia calcification in one. MRI scan in one showed high signal in the brainstem and periventricular region and cerebral biopsy in this patient showed myelin loss and the presence of Rosenthal fibres. A similar disease affected the siblings' mother, maternal aunt and two of the aunt's daughters, suggesting an autosomal dominant mode of transmission of what appears to be a unique genetic disorder.
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PMID:A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. 841 38

We analyzed electroclinical seizures observed by long video split-screen recording in 21 patients with Lennox-Gastaut syndrome (LGS). All patients had atypical absence seizures, 18 (81%) had tonic seizures, and 4 (21%) had myoclonic-atonic seizures. Tonic seizures were axial with flexion or extension of the head or trunk, or global with generalized tonic spasm mimicking infantile spasm, or involved the eyeballs only (either brief, with upward deviation of eyeballs or long, with oscillatory nystagmus). EEG showed either a bilateral 10-13-Hz rhythm or generalized synchronous spike wave at 3 Hz. Myoclonic-atonic seizures involving limbs, trunk, or neck were either brief or massive; the discharges were 2-3.5-Hz spike wave. Atypical absence seizures evolved gradually, terminated abruptly, and manifested alone or with subtle motor activity or oral automatism. EEG discharges were variable and of different types: (a) Diffuse irregular spike wave at 2-2.5 Hz with or without fragmentation (consciousness was regained during fragmentation or when spike wave discharges were < 2 Hz), (b) irregular diffuse fast activity at 10-13 Hz, or (c) a combination of fast spike wave or sharp waves of increasing amplitude followed by synchronous spike wave discharges at 3 Hz.
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PMID:Electroclinical seizures in Lennox-Gastaut syndrome. 842 43

Review of the medical records of 2 major adult teaching hospitals for a 4-year period revealed 33 instances of carbamazepine overdose. These patients had a mean age of 30 years and 58% were known epileptics. They ingested a mean of 12g carbamazepine (range 1.6 to 45g), with 51% of cases involving other drugs, particularly alcohol. The clinical manifestations of toxicity formed a recognisable clinical picture of diminished conscious state (100% of patients), mydriasis (42%), abnormal muscle tone and tendon reflexes (55%) and ataxia, nystagmus or ophthalmoplegia (48%). 24% of cases were complicated by seizures. The incidence of hyperglycaemia and hypokalaemia were related to higher drug concentrations. 12% showed hyponatraemia and 50% had transient evidence of hepatic dysfunction. The pharmacokinetic properties of carbamazepine play a role in determining management strategies. Management is largely supportive through avoidance of drug interactions, large doses of activated charcoal, careful airway management and correction of electrolyte disturbances.
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PMID:Carbamazepine overdose. Features of 33 cases. 847 Nov 90

We report 22 cases of alternating hemiplegia of childhood. In addition to repeated episodes of hemiplegia lasting from a few minutes to several days, the disease was characterized by an onset before 18 months of age, the occurrence of tonic or dystonic attacks, nystagmus, dyspnea and other autonomic phenomena, and the development of cognitive impairment and of a choreoathetotic movement disorder. All the patients also had episodes of quadriplegia that occurred either when a hemiplegia was shifting from one side to the other or as an isolated manifestation. Such episodes were often severe and followed by developmental deterioration. In all children, sleep consistently relieved both weakness and associated paroxysmal phenomena, but these would reappear 10 to 20 minutes after the children awakened, during long-lasting episodes. Although six patients also had epileptic seizures, the condition seems to be distinct from epilepsy, and the clinical features and poor outcome differentiate it from migraine. Treatment with the calcium-entry blocker flunarizine was partially effective.
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PMID:Alternating hemiplegia of childhood. 849 42

An outbreak of hemorrhagic colitis associated with Escherichia coli O157:H7 occurred in a kindergarten in Saitama, Japan from September to November, 1990. Seven patients admitted to our hospital showed neurological manifestations: generalized seizures, impaired consciousness, urinary incontinence, gaze nystagmus, phrenic nerve palsy, action tremor and vertigo. Two patients died. On the basis of the clinical courses and laboratory findings of the seven patients and postmortem findings of one case, these neurological symptoms were suspected to be induced by the verotoxin elaborated by Escherichia coli O157:H7.
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PMID:Neurological manifestations of hemorrhagic colitis in the outbreak of Escherichia coli O157:H7 infection in Japan. 851 21

Phenobarbital, diazepam, lorazepam, and phenytoin are all currently used for the treatment of acute seizures, including status epilepticus. None of these drugs is considered ideal. Fosphenytoin is a new phenytoin prodrug that fulfills many of the properties of an ideal anticonvulsant drug. The safety, tolerance, and pharmacokinetics of intramuscularly administered fosphenytoin have been evaluated in three clinical trials involving patients requiring loading or maintenance doses of phenytoin. These investigations demonstrated that fosphenytoin is rapidly and completely absorbed after injection into muscle and is quickly converted to produce therapeutic phenytoin plasma concentrations within 30 min of administration. Plasma concentrations of phenytoin achieved with i.m. fosphenytoin exceeded those associated with an equimolar dose of oral phenytoin. i.m. fosphenytoin was well tolerated both locally and systemically. Only mild and transient reactions occurred at the injection site. The most common systemic adverse events reported--somnolence, nystagmus, dizziness, and ataxia--are side effects commonly seen with phenytoin and tended to be mild. Preexisting seizure disorders remained stable. Combination treatment with i.v. diazepam or lorazepam to attain rapid seizure control and i.m. fosphenytoin to maintain the anticonvulsant effect theoretically offers many advantages for control of acute seizures and should be studied.
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PMID:Intramuscular use of fosphenytoin: an overview. 864 11

Nonketotic hyperglycinemia (NKH) is an inborn error of glycine degradation causing muscular hypotonia, seizures, apnea, and lethargy; it has a poor prognosis. Accumulation of glycine in the brain is thought to cause excessive stimulation of the N-methyl-D-aspartate receptor. Dextromethorphan (DM), an N-methyl-D-aspartate receptor antagonist, in doses of 5 to 35 mg/kg per day has been shown to have beneficial therapeutic effects in some patients with NKH. We report the case of a 1-year-old infant with NKH, seizure disorder, and psychomotor delay who was clinically seizure free during treatment with sodium benzoate, arginine, benzodiazepam, and phenobarbital. Although sodium benzoate normalized serum glycine levels (103 to 125 mumol/L), cerebrospinal fluid glycine levels remained elevated (42 to 47 mumol/L), with epileptiform activity on electroencephalography. The addition of low-dose DM (0.25 mg/kg per day) to the treatment led to improvement of electroencephalographic activity, resolution of nystagmus with increased eye contact, and modest progression of developmental milestones. These data suggest that DM at doses significantly lower than previously reported may be beneficial in some patients with NKH. Treatment with low-dose DM needs further evaluation.
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PMID:Efficacy of low-dose dextromethorphan in the treatment of nonketotic hyperglycinemia. 865 42

A female alcoholic presented with Wernicke's encephalopathy subsequent to administration of diazepam and glucose (without thiamine) for treatment of withdrawal seizures. Nystagmus and cerebellar ataxia quickly resolved when administered thiamine, although severe global amnesia consistent with Korsakoff's syndrome persisted. Magnetic resonance imaging (MRI) revealed infarction of the right temporal lobe with hippocampal atrophy, but no lesions of thalamus or atrophy of mammillary bodies. Positron emission tomography (PET) confirmed decreased cerebral metabolic rates for glucose (CMRglu) in the right temporal lobe corresponding to MRI findings, but also significant metabolic asymmetry of dorsal thalamus, i.e. reduced CMRglu in left versus right. This patient is unique in that neuroradiological findings revealed intact mammillary bodies and suggest asymmetrical dysfunctions (structural right temporal and functional left diencephalic) to produce her profound amnesia.
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PMID:Severe global amnesia presenting as Wernicke-Korsakoff syndrome but resulting from atypical lesions. 868 98

Attacks of gelastic (laughing) seizure are usually reported as complex partial seizures of temporal lobe epilepsy and seizures associated with hypothalamic hamartomas, but are rarely reported as complex partial seizures of frontal lobe origin. We recently encountered a 29-year-old woman who had gelastic seizure attacks from age 17. She had shown severe mental retardation with cerebral palsy at 7 months, and entered precocious puberty at age 7. Attacks of gelastic seizure with ipsilateral adversive seizures, ipsilateral oculogyric crisis, and horizontal epileptic nystagmus were observed until her death at age 29. Each gelastic seizure lasted 1 to 10 minutes. Her laughing was very strong and loud. Interictal spikes were observed over the right fronto-parietal lobe, but no ictal spike was detected. The neuropathological examinations of her brain revealed no hypothalamic lesions such as hamartomas, gliosis, and distinct neuronal loss. Her brain was severely affected with multicystic encephalopathy, and the bilateral temporal lobe tissues were almost replaced by the cystic changes. The right frontal lobe and occipital lobe were not cystic. From the clinicopathological examinations, the focus of her gelastic seizure was considered to be of the right frontal origin. The hippocampus and parahippocampal gyrus are major components of the limbic system, which is involved in affective emotions. Although the right hippocampus and parahippocampal gyrus were completely lost, and those of the left hemisphere were almost completely lost, by the multicystic replacements in this case, the gelastic seizure attacks were evoked from right frontal origin. The frontal lobe may play an important role in motor expressions of laughing. The motor expressions of the loud and strong laughing may be one of the characteristic features of frontal lobe-originated gelastic seizure of this case.
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PMID:[Multicystic encephalopathy with frontal lobe-originated gelastic seizure, ipsilateral oculogyric crisis, and horizontal epileptic nystagmus: an autopsy case]. 895 49


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