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)

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
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PMID:Dystonia in a patient with deletion of 18q. 756 32

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.
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PMID:Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children. 768 72

Subacute necrotizing encephalomyelopathy (Leigh's syndrome) is a rare neurodegenerative disease in the adult. The precise metabolic defect is unknown, but abnormalities of a mitochondrial enzyme system related to cytochrome-c oxidase or pyruvate dehydrogenase are described. The clinical picture usually consists of an altered breathing pattern, oculomotor paralysis, other signs of cranial nerve dysfunction, ataxia, myoclonic jerks, nystagmus, generalized seizures, optic atrophy and demyelinating peripheral neuropathy. Hypopnea leads to CO2-retention with consecutive loss of consciousness demanding mechanical ventilation. Respiratory failure is the most frequent cause of death. Here we describe two patients with adult onset Leigh's syndrome and we discuss the longterm treatment strategies including vitamin B1 and CPAP mask.
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PMID:[Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. 771 56

Thirty pediatric cases of carbamazepine overdoses were reviewed retrospectively for the frequency of toxic effects. Patients were divided into three groups, depending on the type of overdose: acute, acute-on-chronic, and chronic. Effects included lethargy in 93%, ataxia in 50%, nystagmus in 13%, and minor arrhythmias in 10%. Major effects included seizures in 20%, coma in 27%, and need for intubation in 20%. Higher serum carbamazepine levels were associated with these major effects in the acute and acute-on-chronic groups but not in the chronic group. Serum levels greater than 35 mg/L (147 mumol/L), were significantly associated with major toxicities.
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PMID:Pediatric carbamazepine overdoses. 784 50

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

This is the 2-year interim report of results from a multicenter, open-label study evaluating the long-term efficacy and safety of gabapentin (Neurontin) as add-on therapy in patients with refractory partial seizures who had had a therapeutic response to gabapentin in a preceding 12-week double-blind trial or 12-week open-label extension. A total of 240 patients continued to receive gabapentin as add-on therapy at dosages of 600-2400 mg/day for an average of 342 days (range 10-784 days). Efficacy analyses compared seizure frequency during consecutive 12-week treatment periods with seizure frequency during the 12-week baseline. During the nine treatment periods evaluated, the percent of patients with a 50% or greater reduction in seizure frequency ranged from 35% to 71%, and the median percent change in seizure frequency ranged from -33% to -60%. At the time of data cutoff, 30% of patients had withdrawn from the study due to lack of efficacy, and 4% due to adverse events. In 225 patient-years of gabapentin treatment in this study, CNS adverse events reported by more than 10% of patients were nystagmus, somnolence, diplopia, tremor, ataxia, and dizziness. No consistent changes in clinical laboratory values were associated with gabapentin. Gabapentin as add-on therapy at dosages up to 2400 mg/day is safe during long-term treatment in patients with refractory partial seizures. Subgroup analyses of patients who remained in the study over the long term confirmed that gabapentin maintained efficacy for up to 2 years.
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PMID:The long-term safety and efficacy of gabapentin (Neurontin) as add-on therapy in drug-resistant partial epilepsy. The US Gabapentin Study Group. 808 58

The serum levels and side effects of an acute oral loading dose-schedule of carbamazepine (CBZ) divitabs [CBZ controlled release (CR)] and phenytoin (PHT) were assessed in patients at risk of seizures. CBZ-CR and PHT were administered to 42 adult patients (21 each) at a dosage of 20 mg/kg with a minimum and maximum dosage of 1,200 and 1,600 mg in patients weighting < 60 and > 80 kg, respectively. CBZ-CR was given as single loading dose; PHT was split, with two thirds of the dose administered at 0 h and one third administered 2 h later. The 24- and 36-h doses were assessed according to the nystagmus status at 24 h. Mean CBZ serum levels (percentage of subjects with level > 4 micrograms/ml shown in parentheses) were 0.0 (0%), 5.2 (62%), 6.7 (81%), 6.8 (95%), and 6.1 micrograms/ml (95%) at 0, 4, 8, 24, and 48 h after loading, respectively, and mean PHT levels (percentage of subjects with PHT level > 10 micrograms/ml in parentheses) were 0.1 (0%), 13.2 (86%), 16.3 (100%), 16.3 (100%), and 15.4 micrograms/ml (82%). One subject in the CBZ group and 3 in the PHT group vomited. Clinical effects did not differ significantly between treatment groups and are reported. Acute doses of CBZ-CR 20 mg/kg and PHT 20 mg/kg (two-thirds at 0 h and one-third at 2 h) provided therapeutic levels in most patients in < or = 4 h and were well tolerated.
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PMID:Acute oral loading of carbamazepine-CR and phenytoin in a double-blind randomized study of patients at risk of seizures. 811 44

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

Epileptic nystagmus (EN) is a rare sign of seizure activity. We describe eight patients with horizontal EN and hypothesize that the frequency of ictal discharge, anatomic localization of ictal activity, and level of consciousness determine its occurrence and mechanism. We believe that EN is due to epileptic activation of a cortical saccade region; in each case, quick phases were generated away from the side of the focus, and both quick and slow phases were totally confined to the field contraversive to the seizure focus.
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PMID:Neurophysiologic and clinical correlations of epileptic nystagmus. 797

A young goat was presented with a left spastic hemiparesis and general proprioceptive ataxia with postural reaction deficits, a right head tilt and positional nystagmus. Seizure-like activity was elicited by rapid changes in the position of the animal's head. The neurological signs and quality of the seizure activity suggested a lesion involving the medulla and possibly the cerebellum. A focal lesion at the level of the left cerebellar peduncles could explain the left hemiparesis and right paradoxical vestibular signs. A large encapsulated abscess was found at the confluence of the left cerebellar peduncles. The morphology and staining characteristics of the organisms within the abscess were consistent with Corynebacterium pseudotuberculosis.
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PMID:Brain abscess in a goat. 830 50


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