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)

Cross sectional echocardiography, 12 lead electrocardiography, and 24 hour ambulatory electrocardiography were performed in eleven patients with tuberous sclerosis. Echocardiography showed single or multiple intramyocardial masses, most commonly in the ventricular septum, suggestive of rhabdomyomata in seven of the eleven cases. One patient with a normal echocardiogram showed ventricular pre-excitation on electrocardiography, with tachycardias of 180 beats per minute on ambulatory monitoring. Sinus bradycardia, sinus tachycardia, and supraventricular tachycardia were also seen, but their importance is uncertain. Echocardiography and electrocardiography should be routinely performed in the assessment of patients with tuberous sclerosis and ambulatory electrocardiography should be considered in those with seizures that respond poorly to anticonvulsants.
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PMID:The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study. 407 92

We analyzed 320 electroencephalograms done on 60 patients having tuberous sclerosis. The main features in EEGs were diffuse slowing in the background activity, slow spike-wave discharges, focal and multifocal spike discharges, and amplitude asymmetries. No significant changes occurred in EEGs during the follow-up. No characteristic pattern was identified for diagnosing TS. Severe abnormalities were seen in patients who had infantile spasms and frequent seizures, and who were mentally retarded. Slow spike-wave abnormality was less frequent in patients who had mild mental retardation and few seizures. The pathological findings did not offer any clue to the frequently recorded EEG abnormalities.
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PMID:Tuberous sclerosis: long-term follow-up and longitudinal electroencephalographic study. 407 35

This case study presents the history of a child diagnosed with severe tuberous sclerosis (TS) with an original prognosis of severe to profound mental retardation. Infantile spasms and seizures were eventually controlled, and with educational and therapeutic intervention, this child progressed until she was functioning within normal limits by age 4. This paper presents the position that early diagnosis, early seizure control, and early multidisciplinary intervention are crucial in reducing the poor prognosis in such cases.
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PMID:Tuberous sclerosis: case study of early seizure control and subsequent normal development. 609 76

Although tuberous sclerosis is transmitted through a dominant gene, less than half the parents and siblings of the 97 individuals surveyed had received genetic counseling. There was no apparent difference in severity of handicaps in relation to whether the gene was transmitted by the father or the mother. The majority of the sample were mentally retarded, and speech was more affected than gross motor development. Behaviour problems were of more concern to parents than their children's seizures or worries about the future.
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PMID:Tuberous sclerosis: a survey of 97 cases. III: Family aspects. 619 27

Tuberous sclerosis (TS) is a rare disease of the nervous system, being characterized by seizures, mental retardation and adenoma sebaceum. Concomitant pleuropulmonary lesions and spontaneous pneumothorax are extremely rare during the evolution of this disease. To date, only 19 cases of TS and spontaneous pneumothorax have been described in the literature. Here we present a case of TS and associated pleuropulmonary lesions with spontaneous pneumothorax in a 29-year-old female patient. Clinical, roentgenographic and histological aspects of this disease are commented upon.
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PMID:Tuberous sclerosis and associated pleuropulmonary lesions. 619 62

The long-term prognosis of 192 surviving children with the syndrome of infantile spasms was evaluated. The children had been admitted to three paediatric hospitals in Helsinki at the time of initial diagnosis. The aetiological factors of the syndrome were carefully studied in each case. ACTH therapy was employed in 162, usually for about six weeks. The follow-up study 3-19 (mean 10.4) years later was made at the Children's Hospital, University of Helsinki. The rate of mortality was 19.6 per cent. Normal development was seen in 12 per cent and slightly subnormal in 10.4 per cent of the surviving children. Psychiatric disorders were seen in 27.6 per cent of the survivors. Sensory defects were also common. Severe cerebral palsy was seen in 4 per cent. Other seizures after cessation of the infantile spasms were seen in 60 per cent. Serial EEG studies showed that the temporal lobe was the most common site of abnormality. Abnormalities in the temporal lobes were seen frequently in children with symptomatic neonatal hypoglycaemia as a probable cause of the spasms. Prognostically favourable factors were "idiopathic" aetiology, normal development and not other fits prior to the spasms, short treatment lag, good response to ACTH and short duration of the spasms. In this study early treatment seemed to be of great importance even with regard to mental development. The factors connected with a bad outcome were: symptomatic aetiology (especially brain malformations, early infections and tuberous sclerosis), slow development before spasms, other seizures before infantile spasms, early onset of the spasms, long treatment lag, long duration of the spasms and other later occurrence of myoclonic-astatic seizures (Lennox-Gastaut). Large doses of ACTH (120-160 units) were not associated with a better prognosis than the smaller doses (20-40 units). The benefit of long versus short treatment schedules could not be evaluated in this study. The relapse rate here was 32 per cent.
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PMID:A long-term follow-up study of 214 children with the syndrome of infantile spasms. 628 79

A pair of female homozygous twins with tuberous sclerosis are presented. Both girls showed focal and generalized seizures from the first month of life and also infantile spasms at eight months. Control of seizures was only obtained on the girl who shows now an intelligence a little lower than her sister continuing with focal and/or generalized crisis at least every month. However, mental retardation is important in both sisters. Hypomelanotic spots on the skin were few and very small in both girls. Computed tomography scan of the head showed wide zones of calcification on cerebral hemispheres in both patients from the first months of life. Density of these calcifications experimented great increase with age.
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PMID:[Bourneville's tuberous sclerosis in twin sisters]. 630 48

Four patients with a well-established diagnosis of tuberous sclerosis and grand mal type epileptic seizures as their principal clinical symptom were examined by conventional surface electroencephalography (EEG), X-ray computed tomography, and positron emission tomography (PET) using the [18F]-2-fluoro-2-deoxyglucose method. The interictal EEG showed various abnormalities of poor localizing value, but no focal epileptic discharges. X-ray computed tomography demonstrated subependymal calcifications in all cases, although cortical lesions were found only twice. However, in the PET images of each patient one or two localized cortical foci with a metabolic rate for glucose more than 40% lower than in the respective contralateral region were clearly delineated. It may be assumed that those hypometabolic areas represent the epileptogenic cortical tubers, which are characteristic of the disease but usually cannot be detected in vivo by other methods.
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PMID:Hypometabolic cortical lesions in tuberous sclerosis with epilepsy: demonstration by positron emission tomography. 641 36

Few reports have dealt with the structural abnormalities shown by the neuropil in mentally retarded patients. This Golgi study describes the morphologic changes observed in a brain biopsy from the cerebral cortex of a patient with Bourneville's disease (epiloia). At the time this study was made, the patient was 12 years old and had had a long history of mental retardation and uncontrollable seizures. She, her father, and three other siblings had classic cutaneous signs of epiloia. A biopsy from the right frontal cortex was immediately fixed by immersion, was processed by both H & E and the Golgi method respectively, and examined by electron microscopy. The Golgi-stained material showed a marked fibrillary gliosis at the upper and lower cortical layers, as well as in the heterotopias; the presence of giant cells, closely resembling immature pyramidal cells, with short dendrites growing from their somata and bearing few spines; some other large cells having features compatible with astrocytes; spiral-like glial processes converging upon distorted apical dendrites; these and some other neuronoglial formations establishing specialized anatomical contacts; unorderly arrangement of small and large pyramids within an abnormally compact cortex; abnormal dendritic growths at the level of dendrite bifurcations; and several aberrant patterns of spine morphology, including the megaspine. This first application of the Golgi method to the study of neuropathologic features of epiloia suggests that a poorly developed neuronal circuitry led to the abnormal brain function observed in this case. The same anatomical substrate may occur in other cases of mental retardation.
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PMID:Abnormal dendritic patterns and aberrant spine development in Bourneville's disease--a Golgi survey. 671 54

Tuberous sclerosis was diagnosed in 21 patients (13 female, 8 male) at an age of 3 months to 17 years, 8 of them being younger than 1 year at the time of diagnosis. 14 cases occurred sporadic, 7 patients had a positive familial history of the disease. The diagnosis was based on typical cutaneous lesions (white spots in 19, adenoma sebaceum in 12), cerebral seizures (20 patients) and intracranial calcifications which were found in all 17 patients who were investigated by cranial computerized tomography, especially in all 5 patients who were investigated in the first year of life. In addition two patients showed tumors arising from the region of the frontal horns. Histological examination which was performed in one of them showed the typical picture of a subependymal giant cell astrocytoma. Seizures occurred within the first year of life in 15 of 20 patients. The most common seizure type were infantile spasms (11 patients), grand mal (10 patients) and partial seizures (7 patients). In two children Todd's palsies were observed. Mental retardation of variable degree was observed in 11 patients. Cystic renal lesions were found in one patient with severe haematuria and they were suspected in 3 others on ultrasonographic examination. Retinal phakoma was found in only one patient, cardial rhabdomyoma was suspected in another one who suffered from congenital multifocal atrial tachycardia. The diagnosis in the first year of life was based upon the typical trias of white spots, seizures and intracranial calcifications on CT examination.
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PMID:[Tuberous sclerosis. Clinical and computer tomography findings in infancy and childhood]. 672 96


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