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

Tuberous sclerosis, first described by Bourneville in 1880, is a syndrome characterized essentially by mental deterioration, seizures and cutaneous sebaceous adenoma; an association with malformative lesions of the kidney and cardiovascular apparatus has been documented. Recently a case of a young woman with tuberous sclerosis has come to our observation; she was also affected by abdominal aortal aneurysm and stenosis due to compression of the truncus coeliacus; previously she operative elsewhere for right nephrectomy for breakage of nephric right arterial aneurysm: the histological examination of the removed kidney manifested the presence of a mesoblastic nephroma and afterward tuberous sclerosis was diagnosed. The angiomyolipomatosis evidence confirmed the suspicion of a notable inclination to polydistrict malformations in tuberous sclerosis.
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PMID:[Aneurysm of the abdominal aorta and stenosis caused by compression of the celiac tripod in a young woman with tuberous sclerosis and previous mesoblastic nephroma]. 166 27

The relationship between tuberous sclerosis (TS) and epilepsy on one hand and between agenesis of the corpus callosum (ACC) and epilepsy on the other has been recognized for a long time. Until now, a syndrome characterized by TS, ACC and Lennox-Gastaut syndrome (LGS) has not been described in the literature. Three cases of children, all young male patients, who suffer from TS, ACC and LGS, were presented. The ACC was total in two cases and partial in the third. None of the subjects previously had West syndrome. Two cases showed a slight degree of mental deficiency, while in the third it was very pronounced. In all subjects tonic and astatic seizures were frequent. Antiepileptic therapy improved the clinical picture in one case, while in the other two it remained unchanged.
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PMID:Tuberous sclerosis, agenesis of the corpus callosum and Lennox-Gastaut syndrome: mere chance or a new syndrome? 173 24

We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromosomal analysis revealed a translocation t(3;12)(p26.3;q23.3). The parents were both healthy and had normal karyotypes. As non-random association of a chromosomal abnormality and tuberous sclerosis is hypothesized, a third locus for this disorder on 3p26 or 12q23 has to be taken in account.
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PMID:Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3). 175 5

We report on a 9-year-old boy who developed subependymal giant-cell astrocytoma associated with tuberous sclerosis. Apart from a few hypopigmented skin patches, the boy's clinical picture was completely unremarkable until the onset of diplopia and vertigo reflecting increased intracranial pressure. Magnetic resonance imaging of the brain revealed subcortical hamartomas in addition to the intraventricular tumour. Seizures and mental retardation were absent. The boy's mother had suffered from seizures during childhood and presented with typical skin lesions. The importance of thorough examination and regular follow-up even in patients with oligosymptomatic variants of tuberous sclerosis is emphasized.
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PMID:[Oligosymptomatic Bourneville-Pringle tuberous sclerosis of the brain with giant cell astrocytoma]. 175 57

Computed tomography and magnetic resonance imaging enable the identification of neuronal migration disorders during life. Several specific syndromes have been identified and early diagnosis of previously unrecognized entities is now possible. We report 51 patients with imaging. Thirty-two had a single widespread cortical dysplastic lesion. Twenty-eight had focal corticectomies. From a pathological standpoint, these encompassed focal cortical dysplasia (14 cases) and forme fruste of tuberous sclerosis (10 cases). These two groups of patients were indistinguishable from the clinical and radiological standpoint. In only two was the MRI examination normal. In addition, there were 10 with bilateral perisylvian dysplasia, four with diffuse cortical dysplasia or the "double cortex" syndrome, three with hemimegalencephaly, one with megalencephaly, and one with nodular neuronal heterotopia. The electroclinical and imaging findings led to the development of specific surgical strategies for the alleviation of the intractable seizures in each of these radiologically-defined syndromes.
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PMID:Neuronal migration disorders: a contribution of modern neuroimaging to the etiologic diagnosis of epilepsy. 177 74

We studied 30 patients with partial epilepsy and a radiological or pathological diagnosis of localized neuronal migration disorders, with a view to surgical treatment. Eight patients had identifiable prenatal etiological factors. The frequency of complex partial, partial motor, and secondarily generalized seizures was approximately 70% each. Drop attacks were present in 27%: Their presence usually correlated with a lesion involving the central region. Partial motor or generalized convulsive status epilepticus occurred in 30%, and was most frequently associated with extensive structural abnormalities involving two or more lobes. A full-scale intelligence quotient of less than 80 was found in 44%. Magnetic resonance imaging (MRI) was superior to computed tomography for identification of the dysplastic cortical lesions. In one third, MRI showed only subcortical abnormalities. It did not allow distinction between true pachygyria, focal cortical dysplasia, or the forme fruste of tuberous sclerosis. The epileptogenic area was usually more extensive than the lesion; it was multilobar in more than 70% of patients. Of 26 surgically treated patients, a histological diagnosis of the type of neuronal migration disorder was possible in 22: 12 had focal cortical dysplasia and 10 the forme fruste of tuberous sclerosis. In the remaining 4, no definite histological diagnosis was made, since the maximally abnormal tissue could not be examined. In the latter, and in the 4 nonoperated patients, the diagnosis of neuronal migration disorder was based on imaging findings. The presence of the forme fruste of tuberous sclerosis correlated with delayed psychomotor development and more extensive epileptogenic areas.
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PMID:Focal neuronal migration disorders and intractable partial epilepsy: a study of 30 patients. 178 91

Twenty-six patients with focal or lateralized neuronal migration disorders and intractable partial epilepsy were treated surgically. Twenty-four had reliable follow-up ranging from 1 to 15 years (mean, 5.0). Pathologically, they fell into two categories: focal cortical dysplasia (12 patients) and forme fruste of tuberous sclerosis (8 patients). In the remaining 4 patients, the material was inadequate for histological analysis. Outcome regarding seizure control was assessed according to a classification most sensitive to variations in frequency of major attacks. Ten (42%) of the 24 patients achieved good or excellent outcome, 6 (25%) had a worthwhile decrease in seizure frequency, and 8 (33%) had only discrete improvement. The variable most strongly correlated with surgical outcome was the amount of lesion removed. Seventy-seven percent of patients in whom a complete excision or excision of 50% or more of the lesion was accomplished achieved excellent or good surgical outcome. Conversely, no patient with less than 50% of the lesion removed attained the same result. There was no correlation between other clinical, radiological, or electrographic variables and outcome regarding seizure control. Specifically there was no significant correlation between the amount of excision of the epileptogenic area as judged by scalp electroencephalography and electrocorticography studies, and surgical outcome. In patients with neuronal migration disorders and intractable partial epilepsy, removal of the structural abnormality takes precedence over removal of epileptogenic tissue as the main surgical strategy to achieve seizure control.
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PMID:Focal neuronal migration disorders and intractable partial epilepsy: results of surgical treatment. 178 92

Prior studies indicate variable usefulness of magnetic resonance imaging (MRI) in the evaluation of patients with complex partial seizures (CPS), but sensitivities as low as 12% have been reported. We analyzed the MRI examinations of 20 patients with medically refractory CPS who later underwent resection of the seizure focus proven by electroencephalography (EEG). MRI studies were correlated with surgical pathology in all patients. Eleven of the 20 CPS patients had mesial temporal sclerosis (MTS). Seven of the 11 (64%) exhibited an MRI abnormality at the site of the EEG-demonstrated histopathologic focus. MRI abnormalities included temporal lobe hypoplasia or atrophy (four patients), and increased signal intensity on long repetition time (TR) sequences (three patients). Four patients had no MRI abnormalities corresponding to the histopathologic focus. Nine of the 20 CPS patients had other abnormalities responsible for the seizures, including astrocytoma, cryptic vascular malformation, hamartoma, polymicrogyria, tuberous sclerosis (forme fruste), arachnoid cyst, and congenital hemiatrophy. No patient had normal MRI studies. Our single most useful MRI sequence was the coronal long TR/dual echo sequence, using cardiac gating and first-order gradient moment nulling to diminish flow-related artifacts that could hinder evaluation of medial temporal lobe structures.
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PMID:Magnetic resonance imaging of intractable complex partial seizures: pathologic and electroencephalographic correlation. 186 3

The presented patient suffered of seizures during childhood and exhibited the typical skin lesions of tuberous sclerosis. However, the diagnosis was not made until the patient was 26 years old. He had involvement of the central nervous system, the skin, the kidneys, and the lungs. After he developed renal failure he underwent hemodialysis for 57 months and suffered an intracerebral hemorrhage followed by cardiorespiratory arrest age 36.
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PMID:[Tuberous sclerosis with pulmonary involvement. Case report]. 194 68

Tuberous sclerosis is an inherited disorder characterized by a triad of signs--mental retardation, seizures and adenoma sebaceum. The hamartomas that commonly affect multiple organ systems can be seen on plain film radiography. Computed tomography and ultrasonography are useful for assessing whether lesions are present in the abdomen, kidneys and brain. The hamartomas tend to bleed, causing symptoms and prompting the need for evaluation.
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PMID:Tuberous sclerosis. 199 Jul 33


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