Cases reported "Epilepsies, Myoclonic"

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11/69. Epileptic syndromes in childhood: clinical features, outcomes, and treatment.

    We reviewed the clinical features, outcome, and treatment of many of the epileptic syndromes that begin in the childhood from 2 to 12 years of age, using a review of the literature and personal experience, with most references to authoritative texts. The developmental tasks of childhood are centered on refinement of motor skills and development of complex intellectual and social skills. The childhood onset epilepsies can be divided into benign, intermediate, and catastrophic based on their impact on childhood development. The clearest benign epilepsy is benign rolandic epilepsy, which often does not require medication treatment. The definition of benign occipital epilepsy is still often vague. In the intermediate category, childhood absence epilepsy often has associated learning disorders and a poor social outcome. About 50% of children with cryptogenic partial seizures have a very benign course, even though their epilepsy syndrome is not well defined. Generalized epilepsy with febrile seizures plus (GEFS ) has a dominant inheritance with a defined defect in cerebral sodium channels, but varies considerably in severity within affected members of the same kindred. The catastrophic epilepsies in childhood all have an inconsistent response to AED treatment and include continuous spike-wave in slow sleep (with variable severity), landau-kleffner syndrome (with a confusing overlap with autistic regression), the Lennox Gastaut syndrome (with broad defining features), and myoclonic-astatic epilepsy (with important overlaps with Lennox-Gastaut). Many of the epilepsies that begin in childhood are benign. Others interfere seriously with cognitive and social development.
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keywords = complex
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12/69. Refractory photosensitive epilepsy associated with a complex rearrangement of chromosome 2.

    We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes.
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keywords = complex
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13/69. Myoclonic encephalopathy caused by chronic bismuth abuse.

    bismuth (Bi) is used for the treatment of different gastrointestinal symptoms and disorders such as gastric ulcers. In germany, Bi medication is available without prescription as over-the-counter-medication even though it can cause severe myoclonic encephalopathy if ingested chronically in high doses. We report a 49 year-old woman with chronic gastric ulcers and 5 years of Bi abuse who developed the typical clinical course of Bi encephalopathy. She presented with progressive dementia, dysarthria and myoclonic jerks one week after increasing the Bi dosage. The EEG showed generalized spike-wave complexes suggesting that the myoclonus was epileptic in nature. Bi intake was stopped and valproate was given, which decreased the frequency of the myoclonic jerks. Administration of the metal chelator D,L-2,3-dimercaptopropane- 1-sulfonic acid (DMPS) led to increased urine excretion of Bi, but was accompanied by a clinical deterioration which resulted in it being discontinued. The subsequent clinical recovery of the patient was documented over 40 days by EEG, video and neuropsychological testing. A time lag of two weeks was observed between falling plasma levels and clinical improvement. In conclusion, Bi-induced encephalopathy is a differential diagnosis for myoclonic encephalopathies. Treatment with metal chelators may aggravate the encephalopathy. The over-the-counter availability of medications containing Bi should be questioned. (Published with video sequence.)
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14/69. Uneven distribution of mitochondrial dna mutation in MERRF dizygotic twins.

    A new family of myoclonic epilepsy with ragged-red fibers (MERRF) was studied at clinical, histological, biochemical and molecular genetic levels. There was a remarkable variation in the age of onset, the clinical presentation and the severity of symptoms. Multiple defects affecting respiratory chain complexes I, III and IV were detected in 2 patients. The point mutation at 8344 of the mitochondrial genome was found in all the maternal lineage with a relatively narrow range of variation in the percentage of mutant mitochondrial genomes. The one exception was represented by a set of dizygotic twins, one clinically affected and showing high proportions of mutant mitochondrial DNAs (mtDNAs) in blood cells, while the other was asymptomatic and showed very small amounts of mutant mt-DNAs in blood and skin. This could suggest an early segregation of the mitochondrial genome during ovogenesis.
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keywords = complex
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15/69. Electrical status epilepticus on eye closure: a case report.

    The authors present the clinical case of a boy manifesting eyelid myoclonias on eye closure. The corresponding electroencephalographic recording was characterized by unceasing spike activity, constituting a sort of electrical status epilepticus. There was no loss of consciousness or differences between results of neuropsychological tests with eyes open and closed.
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ranking = 163379.04696876
keywords = status epilepticus, epilepticus, status
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16/69. Benign neonatal sleep myoclonus. A differential diagnosis of neonatal seizures.

    OBJECTIVE--To describe 10 infants with benign neonatal sleep myoclonus. DESIGN--Patient series, representing the experience of one pediatric neurologist. SETTING--Referral-based Pediatric neurology Service at a Children's Hospital. patients--Sequential sample of 10 neonates referred for assessment of seizures and found to have benign neonatal sleep myoclonus. Neonates who did not have the events of concern during electroencephalography or in whom electroencephalography was not done were excluded even if the clinical features suggested the entity. RESULTS--Our patients met the criteria for the diagnosis. The myoclonus often increased with gentle restraint. The amplitude and duration of events mimicked convulsive status epilepticus and serial seizures in four neonates. In two of them the myoclonus worsened in spite of anticonvulsant therapy, decreasing substantially when such treatment was stopped. CONCLUSION--Benign neonatal sleep myoclonus, an entity characterized by (1) neonatal onset, (2) myoclonic jerks only during sleep, (3) abrupt and consistent cessation with arousal, (4) absence of concomitant electrographic changes suggestive of seizures, and (5) good outcome must be included in the differential diagnosis of neonatal seizures.
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ranking = 32675.809393752
keywords = status epilepticus, epilepticus, status
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17/69. epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report.

    Lafora-body disease (LBD) is a rare neurometabolic disorder of autosomal recessive inheritance associated with progressive myoclonic epilepsy. We report here the first description of ictal and interictal recording by electroencephalography (EEG) and magnetoencephalography (MEG) of a 15-y-old girl suffering from LBD. CONCLUSIONS: Complementary use of MEG and EEG might be of future help to the clinician in better defining the pathophysiology of complex seizures, and also in patients with progressive neurological disorders, despite the poor prognosis of syndromes such as LBD.
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keywords = complex
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18/69. adult postanoxic "erratic" status epilepticus.

    A 66-year-old woman with posttraumatic anoxic coma after diffuse cerebral fat embolism had continuous alternating-side myoclonic jerks. Usually, this kind of myoclonic status epilepticus (SE) occurs in newborn infants. We postulate the unusual combination of diffuse cerebral anoxia plus commissural fiber damage as a possible explanation.
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ranking = 163379.04696876
keywords = status epilepticus, epilepticus, status
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19/69. Muscle glycogen depletion and increased oxidative phosphorylation following status epilepticus.

    We describe complete glycogen depletion and increased respiratory chain enzyme activity in a muscle biopsy obtained prior to the demise of a patient in multiorgan failure following status epilepticus. These findings validate the theoretical basis of muscle energy turnover during status epilepticus: the increased demand for energy leads to complete depletion of glycogen reserves. The attempt to preserve adenosine triphosphate requirements results in increased activity of respiratory chain enzymes.
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ranking = 196054.85636251
keywords = status epilepticus, epilepticus, status
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20/69. Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency.

    An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the fingers and toes, hepatomegaly, marked axial and peripheral hypotonia and severe global developmental delay. Ophthalmological assessment showed 'salt and pepper' pigmentary retinopathy. The urinary organic acid profile revealed a marked increase in tricarboxylic acid metabolites. Urinary phosphate reabsorption was reduced at 84%. Type I fibre atrophy was seen on muscle histology, and a cytochrome c oxidase deficiency was found only on enzymology of liver tissue. Limb malformations associated with respiratory chain defects have rarely been reported. To our knowledge, this child has the most severe limb anomaly associated with a tissue-specific complex IV respiratory chain defect.
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ranking = 6
keywords = complex
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