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

A total of 244 epileptic children were collected in an epidemiological and prognostic investigation on epilepsy. The children were divided into four groups according to their motor performance. There were 150 children with no motor handicap, 32 with clumsiness, 51 with cerebral palsy and 11 with severe muscular hypotonia associated with grave mental handicap. A study was made of age at onset of epilepsy, intelligence level, maximum frequency of seizures, grand mal status, results of medical treatment, and the time elapsed since the last seizure. A significant correlation was found between severity of motor handicap and poor prognosis of epilepsy.
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PMID:The significance of motor handicap in the prognosis of childhood epilepsy. 12 17

EEG, ERG, and VEP studies were carried out in 60 children with verified neuronal storage of ceroid/lipofuscin-like material. Comparing and contrasting the EEG/ERG/VER features of each child during the symptomatic phase of the disease, three distinct main groups could be recognised: (1) Progressive diminution in amplitude of the EEG and VEP beginning about the age of 2 years was seen in seven children, and all phasic cerebral activity was unrecordable at 3-4 years of age; the clinical onset with regression in skills began at 1-2 years of age; (2) Large amplitude irregular slow activity and polyphasic spikes appeared in 27 children in whom characteristic discharges were elicited at low rates of photic stimulation (grossly enlarged VEP); the clinical onset was around 3 years of age with an occasional seizure and some clumsiness; (3) Runs of slow wave and spike complexes were seen in the EEG of 10 children with a small or absent VEP; the clinical onset with visual failure began around 5-7 years of age. In the remaining 16 children, the EEG and the clinical features fell into much smaller groups, possibly of rarer type. The ERG became unrecordable at an early symptomatic phase in all 60 children. The present findings suggest that such umbrella terms as neuronal ceroid lipofuscinosis or Batten's disease, which imply a single disease entity, are misleading. Neurophysiological investigations can help in early identification of these separate conditions. When the biochemical basis of these disorders becomes fully understood a more rational nomenclature will be possible.
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PMID:So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children. 87 9

First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic intermediate filaments affecting the nervous system particularly. The condition was originally thought to be a disorder of the peripheral nervous system, but clinical and pathological evidence has now accumulated which indicates that the brain and spinal cord are progressively involved. Over 20 cases have been reported to date. All cases reported have developed clumsiness and progressive weakness with hyporeflexia in the first seven years of life. Later dysarthria, cerebellar signs and pyramidal tract disturbances appear. Mental retardation, dementia and seizures are sometimes seen. Tightly curled hair is characteristic of, but not invariably present in, the condition. This disorder, as well as a similar condition affecting dogs, appears to be transmitted by autosomal recessive inheritance. No treatment is effective. Most cases are wheelchair bound or dead by the end of the second decade.
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PMID:Giant axonal neuropathy. A review. 254 97

A 19-year-old woman with long-standing sensorineural deafness, bilateral cataracts and mild clumsiness, presented with acute focal edema in the left temperoparieto-occipital area which required surgical decompression as a life-saving measure. Investigation revealed a persistent lactic acidemia and evidence of many ragged red fibres in a skeletal muscle biopsy specimen, suggesting a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. The patient developed two further stroke-like episodes over a short period. One sibling died at the age of 14 years with a progressive neurological illness characterised by seizures, bilateral optic atrophy, ataxia, myoclonus and progressive dementia. The diagnosis of MELAS syndrome should be considered in young people presenting with stroke-like episodes that fail to conform to a given vascular territory, particularly if they have long-standing minor neurological abnormalities or a family history of obscure early onset neurological disease. The different clinical pictures in the two affected siblings in this family suggest that MELAS syndrome is part of a spectrum of inherited mitochondrial cytopathies rather than a discrete disease entity.
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PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 339 2

We describe the clinical course and treatment of 19 patients with the Northern epilepsy syndrome, an autosomal recessively inherited epilepsy with associated mental deterioration. The clinical course could be divided into three successive stages. The first stage continued from the onset of epilepsy until puberty. Seizures began at a mean age of 6.6 years and consisted predominantly of generalized tonic-clonic convulsions (GTC) and, transiently, also of complex partial seizures (CPS). Until puberty, seizure frequency increased in most patients from one attack in 1-2 months to one to two attacks weekly. Seizures did not respond to phenytoin (PHT) or carbamazepine (CBZ), were transiently controlled by valproate (VPA) and phenobarbital (PB), but were effectively treated only by clonazepam (CZP). Mental deterioration began 2-5 years after the onset of epilepsy and was most rapid before adulthood, a time when the seizures were also most frequent. The second stage is marked by fewer seizures, further mental deterioration, and less rapid progression. All patients were demented (I.Q. < 70) by age of 30 years. The first signs of motor clumsiness also appeared then. The third stage was one of permanent disability and usually began in middle age. Seizures were few, but the patients were clumsy and had marked equilibrium difficulties.
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PMID:Northern epilepsy syndrome: clinical course and the effect of medication on seizures. 763 97

Juvenile myoclonic epilepsy does not seem to be recognized as often as it should be, accounting as it does for about one in 10 of those with epilepsy. In addition to the myoclonus, absence seizures and tonic-clonic fits can occur. The interictal EEG shows polyspike and wave discharges, and during the myoclonus, medium to high amplitude 16 Hz spikes. Patients may not be seen by a doctor until a major seizure occurs, and if a history of myoclonus is not obtained, inappropriate treatment may be given. The myoclonus may attributed to clumsiness. The inheritance of the condition is most probably polygenic, although it is claimed that juvenile myoclonic epilepsy may be determined by a single autosomal recessive gene. The most effective treatment is with sodium valproate, and this may have to be life-long. In the presence of major seizures carbamazapine should be used with caution as it may exacerbate minor attacks.
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PMID:Review: juvenile myoclonic epilepsy. 803 30

To evaluate intellectual functions of epileptic children, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed on 69 children with epilepsy, and the test results were compared with their clinical symptoms and electroencephalographical findings. Both verbal IQ (VIQ) and performance IQ (PIQ) were significantly lower in the symptomatic group than in the idiopathic or cryptogenic groups, and also significantly lower in patients receiving polytherapy than monotherapy. PIQ was significantly low in patients treated with carbamazepine (CBZ), in those with poor control of seizures, in clumsy children, and cases with poor performance on visuo-motor tests. In the last two categories of patients there was an increased difference between VIQ and PIQ (discrepancy), and profile analysis revealed an impairment in non-verbal cognition and visual organization. On EEG records the patients with frontopolar (Fp) or frontal (F) focus had a significantly lower PIQ and an increased discrepancy. Migration of the epileptic focus during the periodic monitoring of EEG was also an important factor for an increased discrepancy. Furthermore, profile analysis suggested the impairment of the functions of the cerebral cortex associated with epileptic foci. These results indicate that either motor disability, such as clumsiness and minor motor disturbance, or epileptic focus on EEG are important factors affecting the assessment of neuropsychological aspects in epileptic children.
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PMID:[Comprehensive neuropsychological analysis of epileptic children with WISC-R, including profile analysis of subtests]. 857 55

We report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderline/normal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a "new" form of AR microcephaly, since normal intelligence is not found, nor are the associate findings as pronounced, as in other, more common forms of AR microcephaly (i.e., "microcephalia vera").
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PMID:Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose. 858 59

The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of childhood, with an incidence of 1:12,500 live births. They are characterized by accumulation of autofluorescent lipopigments in various tissues. Several forms of NCLs have been identified, based on age at onset, progression of disease, neurophysiological and histopathological findings and separate genetic loci. All types of NCL cause progressive visual and mental decline, motor disturbance, epilepsy and behavioral changes, and lead to premature death. One of the subtypes, Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL; MIM256731) affects children at 4-7 years of age. The first symptom is motor clumsiness, followed by progressive visual failure, mental and motor deterioration and later by myoclonia and seizures. We have previously reported linkage for vLINCL on chromosome 13 (ref. 5) and constructed a long-range physical map over the region. Here, we report the positional cloning of a novel gene, CLN5, underlying this severe neurological disorder. The gene encodes a putative transmembrane protein which shows no homology to previously reported proteins. Sequence analysis of DNA samples from patients with three different haplotypes revealed three mutations; one deletion, one nonsense and one missense mutation, suggesting that mutations in this gene are responsible for vLINCL.
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PMID:CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 966 6

This paper reports a surgically treated case of Sturge-Weber syndrome (SWS) in which the epileptic foci and haemangiomatosis were successfully resected under monitoring of intraoperative electrocorticography. The patient was a 19-month-old female infant who was referred to our hospital because of frequent hemi-tonic-clonic convulsions that were resistant to anticonvulsant therapy. Serial MRI showed progressive atrophy in the left fronto-parieto-temporal lobe, and gyral enhancement by gadolinium corresponded to venous haemangiomatosis of SWS. Three-dimensional reconstruction of the MR images was performed using the Viewing Wand System. Conventional EEG taken before the operation showed slow activity in the left frontal lobe. Intraoperative ECoG revealed spike focus at the posterior temporal cortex to the margin of the haemangiomatosis. Lesionectomy with lobar corticectomy of the total frontal and parietal lobe and part of the temporal lobe was performed. The epileptogenic focus detected by ECoG in the posterior temporal lobe was also resected. In post-excisional ECoG, epileptogenic activities had disappeared. The patient had hemiparesis and hemihypesthesia just after the surgery, but gradually recovered from the paresis and almost has normal motor function except for right-hand clumsiness up to 1 year after Surgery. The present study demonstrated that lobar corticectomy of the haemangiomatosis-affected cortex with resection of the neighbouring epileptogenic focus is a good surgical alternative even if a haemangiomatosis of the SWS affected multilobar corti of the hemisphere.
Seizure 1998 Dec
PMID:Intraoperative electrocorticography and successful focus resection in a case of Sturge-Weber syndrome. 988 97


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