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

Electro-clinical patterns of seizures were studied in 7 infants with Aicardi Syndrome. In all 7 cases, partial seizure preceded the appearance of asymetrical spasms. Partial seizures and spasms were recorded by polygraphing tracings of long duration. There was a constant correlation between the EEG localization of partial seizures and the side of asymetrical spasms. In 6 cases, a cluster of spasms followed the partial discharge whereas in the 7th case, the partial discharge appeared in the middle of the cluster. Therefore, both partial seizure and cluster of spasms seem to be part of the same critical manifestation. The authors have recorded the same king of seizures in other malformative syndromes (lissencephaly, Bourneville disease) and compare them to those recorded in Aicardi Syndrome. In Aicardi Syndrome, this type of seizures might be in relation with the association of a corpus callosum agenesy and paraventricular heterotopies.
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PMID:[Electroclinical characteristics of seizures in the Aicardi syndrome]. 382 49

We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.
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PMID:Cystic renal involvement in tuberous sclerosis. 388 Jun 84

A cardiac murmur was found in a newborn, after 12 hours of life. It was related to an intracardiac tumor, and we made the diagnosis of tuberous sclerosis. The same diagnosis was made in another patient, with a tumor diagnosed by obstetrical echography. In these two cases, seizures occurred rapidly during the evolution. In one case, the heredity was dominant, in the other one, it was a "de novo" mutation. It is unusual to diagnose tuberous sclerosis during the neonatal period, so we report these two cases.
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PMID:[Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases]. 391 32

A case note study of 90 children with tuberous sclerosis showed that 56 had taken nitrazepam for seizures for from one month to 13 years. In 38 children nitrazepam was withdrawn but only two had immediate major seizures. Given that sleepiness, deterioration in motor skills, or ataxia seems to be associated in some children with treatment with nitrazepam, doctors may wish to review their long term prescriptions of this drug in children with tuberous sclerosis.
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PMID:Prolonged use of nitrazepam for epilepsy in children with tuberous sclerosis. 392 2

Six patients with chronic epilepsy had persistent periodic lateralized epileptiform discharges (PLEDs) in their interictal electroencephalographic recordings. Three patients had complex partial seizures, two had infantile spasms, and one had multifocal seizures. Four patients had cerebral pathologic changes consisting of tuberous sclerosis (two patients), a porencephalic cyst (one patient), and a chronic brain abscess (one patient). Although PLEDs are usually seen in association with an acute or subacute disturbance of cerebral function, the findings in this group of patients show that chronic PLEDs also can occur in patients with long-standing seizure disorders or chronic brain lesions.
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PMID:Chronic periodic lateralized epileptiform discharges. 396 17

Two infants are described with intractable, drug-resistant seizures from birth associated with an enlarged cerebral hemisphere. The first died at sixteen months and demonstrated arrested head growth. Histology of the abnormal hemisphere showed disturbed cortical architecture, and subcortical heterotopias with multinucleate cells resembling tuberous sclerosis cells. Continuous fitting persisted in the second infant following callosal section. Hemispherectomy was undertaken in an attempt to preserve function of the "normal" hemisphere. Seizures ceased and head growth velocity accelerated. The neuropathology of the excised hemisphere is compared with the first case. From the literature this is the first report of a favourable outcome after hemispherectomy for hemimegalencephaly. The finding of an echodense enlarged hemisphere may allow presumption of this diagnosis in a neonate with unilateral seizures. After CT scan the diagnosis may be confirmed histologically providing that a precisely orientated frontal biopsy is submitted to the neuropathologist. We suggest that very early hemispherectomy may be the treatment of choice for this condition.
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PMID:Hemimegalencephaly--a case for hemispherectomy? 397 4

Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.
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PMID:The late appearance of hypopigmented maculae in tuberous sclerosis. 397 32

Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of the gene for the disease when carefully examined. This article reports on a family with documented tuberous sclerosis in three generations and discusses the examination and investigation of at-risk family members, including the newborn, for signs of the disease. The potential teratogenic effects of anticonvulsants, used to control seizures in tuberous sclerosis, are also discussed.
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PMID:Tuberous sclerosis: case report and investigation of family members. 397 2

The incidence of tuberous sclerosis in Rochester, MN, was 0.56 per 100,000 person-years in 1950 through 1982, and point prevalence on December 31, 1980, was 10.6 per 100,000 persons. The true incidence and prevalence may be even higher, because cases with hypomelanotic macules and no other clinical manifestations are often unrecognized. Pertinent clinical observations in the eight cases identified included familial occurrence in two; hypomelanotic macules in all eight; seizures with onset before age 2 in four, of whom two were mentally retarded; and no neurologic abnormalities in those free of seizures.
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PMID:Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. 398 55

Two neonates with tuberous sclerosis are reported. The patients presented convulsive seizures 30 mins or 5 days after birth. Computer-assisted cranial tomography (CT) on admission showed typical paraventricular calcifications in Case 1 and a calcified mass in Case 2. In addition to the CT findings, the diagnosis was made on the basis of the depigmented skin, and the mother with tuberous sclerosis in Case 1 and the pathological findings after surgery in Case 2. The importance of CT as a diagnostic procedure for this disease within 1 wk after birth is emphasized.
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PMID:Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth. 406 83


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