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

The incidence of tuberous sclerosis complex in Olmsted County, Minnesota, was 0.28 per 100,000 person-years from 1950 through 1989, the point prevalence on December 31, 1989, was 6.9 per 100,000 persons, and the incidence at birth was 6.0 per 100,000 live births. The incidence was 0.13 per 100,000 person-years from 1950 through 1974 and 0.46 per 100,000 person-years from 1975 through 1989. The higher rate of diagnosis during the later period is believed to be due to the use of computed tomography. Of the 12 patients considered in this study, one patient presented with seizures and severe intellectual disability, six patients presented with seizures, three patients presented with multiple facial angiofibroma, and two patients were asymptomatic.
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PMID:Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989. 201 13

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Remarkably, the boy was not mentally retarded and never had suffered from seizures. Apart from white skin patches symptoms of increased intracranial pressure were the presenting symptoms. The boy's mother, who was present at the boy's admission, presented with skin lesions typical of tuberous sclerosis. The importance of thorough examination of apparently asymptomatic relatives of patients with tuberous sclerosis is emphasized.
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PMID:[Oligosymptomatic variant of tuberous sclerosis with subependymal giant cell astrocytoma]. 205 9

A 4.5-year-old female twins with tuberous sclerosis are presented. The main clinical manifestations were partial epileptic seizures with complex symptomatology. Repeated EEGs were normal in both twins, while CT scans revealed periventricular calcifications of the brain. The twins were assumed to be monozygotic, what was confirmed with laboratory findings: HLA, identical erythrocyte, enzymatic and protein antigens were found. Skin transplant exchange was not performed. Since both parents do not have any signs of tuberous sclerosis, in this case the disease which is otherwise inherited as an autosomal dominant trait most probably was due to a new mutation which had occurred.
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PMID:[Tuberous sclerosis with epilepsy in monozygotic twins--a new mutation]. 209 70

This report reviews the pathologic findings in brains of 12 patients with focal epileptic seizures who had a craniotomy procedure. A majority of patients (seven) had either a cerebral neoplasm or a developmental abnormality (tuberous sclerosis and hamartoma), and these were found in six of the nine patients with chronic and intractable seizures. Four patients had cortical gliosis or scarring, and one had a bacterial brain abscess. Ten patients had a visible focal structural lesion during cranial imaging procedures, and in two instances, the MRI study was more sensitive than the CT in detecting a cerebral lesion.
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PMID:Pathologic findings in brains of patients with focal epileptic seizures who had a craniotomy procedure. 211 86

Periventricular calcification was found in an eight-year-old boy with seizures. The diagnosis of tuberous sclerosis was considered, but (like his mother) he has central neurofibromatosis. This condition must be considered in the differential diagnosis of children with intracranial calcification and seizures.
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PMID:Intracranial calcification and seizures: a case of central neurofibromatosis. 212 96

Tuberous sclerosis is an autosomal dominant disorder of hamartoma formation in which manifestations may occur in skin, brain, and viscera. In the past, it was believed that the typical presentation included seizures, mental retardation, and facial angiofibromas ("adenoma sebaceum"). This disorder is now recognized to show wide variability of expression. There are only four cases of tuberous sclerosis in pregnancy in the literature. Two of these had favorable maternal and fetal outcomes and the remaining two presented with serious maternal and fetal complications. These included acute intra-abdominal bleeding due to a ruptured renal tumor, which led to renal failure requiring hemodialysis, and severe preeclampsia with pathologically enlarged kidneys noted at the time of cesarean section. This study presents two more cases of tuberous sclerosis in pregnancy. The first case had renal involvement with bleeding into a renal cyst, renal failure, preeclampsia, and severe intrauterine growth retardation. The second case was complicated by preterm premature rupture of the membranes and preterm labor. Renal involvement appears to be the single most important prognostic factor in pregnancies with tuberous sclerosis. Renal evaluation should be performed in any patient who presents for preconceptional counseling.
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PMID:Tuberous sclerosis in pregnancy. 218 12

A 6-day-old neonate with tuberous sclerosis having brain and cardiac tumors is reported. The patient presented with a seizure 20 minutes after birth. Cranial ultrasonography and computed tomography on admission showed a large and round high-density tumor lesion in the left frontal lobe. Echocardiography also showed a large tumor lesion beside the left ventricle wall, and a diagnosis of tuberous sclerosis was promptly made. Two months later, a periventricular calcified lesion was found on the demonstrated portion, and the tumor lesion initially observed in the brain had disappeared. These findings suggest that the initial tumor lesion found in the brain developed into a typical calcified lesion.
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PMID:Neonatal tuberous sclerosis with heart and brain tumors. 228 37

The fate of tuberous sclerosis (TS) patients after renal transplantation (RT) for end-stage renal failure remains to be defined. We report three patients with a posttransplantation follow-up averaging 54 months and review 6 previously published cases. Three women, aged 27-46 years, received a cadaver kidney 26-67 months after starting dialysis. None had mental retardation, 2 had suffered from seizures during infancy and 2 had intracranial calcification; neurological involvement was equally mild in the 6 reported patients. Currently, 16-84 months after RT, our 3 patients are fully rehabilitated with a well-functioning graft (serum creatinine 1.2-1.7 mg/dl). Results of RT are also satisfactory in the 4 other reported cases for whom a follow-up is available, except for 1 death unrelated to the initial disease. Neurologic disorders did not progress. Renal cell carcinoma was discovered in one removed kidney, and cells suggestive of malignant transformation in another case. No metastases were discovered up to 4 years later. No neoplastic transformation was observed up to 7 years after RT in the 3 patients who retained their native kidneys. TS patients with end-stage renal failure are good candidates for RT. The probably small risk of neoplastic transformation of native kidneys warrants a close monitoring by CT scan of the few patients who have not undergone bilateral nephrectomy.
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PMID:Outcome of patients with tuberous sclerosis after renal transplantation. 231 13

A patient with tuberous sclerosis diagnosed at the age of 5 years developed an intractable seizure disorder characterized by complex partial seizures numbering 10-20/day. Interictal electroencephalograms (EEG) showed a right frontal epileptogenic focus. A computerized tomography scan demonstrated calcification in the right frontal region at two sites, periventricular calcification and multiple low density lesions. Neuropsychological assessment showed a verbal intelligence quotient (IQ) of 69 and a performance IQ of 88. Telemetry and video monitoring recorded 10 seizures during which the EEG showed flattening of ongoing sharp wave activity in the right frontal region. Electrocorticography further identified and localized epileptogenic tissue in the right frontal cortex and surgical removal of involved tissue and the adjacent two tubers was carried out. Twelve months after surgery the patient has had only two brief seizures.
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PMID:Selective epilepsy surgery in tuberous sclerosis. 251 30

Tuberous sclerosis is a disease characterised by convulsive seizures, mental deficiency and angiofibromas. These angiofibromas are hamartomas consisting of hyperplastic connective and vascular tissue. A case is reported where multiple angiofibromas of the face resulted in significant disfigurement. The lesions were treated by shaving and dermabrasion; the short-term result was very satisfactory.
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PMID:Shaving and dermabrasion of the facial lesions in tuberous sclerosis. A case report. 254 94


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