1/56. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
2/56. Sudden unexpected death associated with HHV-6 in an adolescent with tuberous sclerosis.A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6-infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
3/56. tuberous sclerosis associated with MDR1 gene expression and drug-resistant epilepsy.Intractable seizures are the most common manifestation in severe cases of tuberous sclerosis. Multidrug resistance type 1 (MDR1) gene expression is directly linked to the resistance of tumor cells to chemotherapy as the major cause of treatment failure, but it has not been reported in tuberous sclerosis cells nor has the relationship between the MDR1 gene and antiepileptic drugs been described. A 4-month-old female is described with poorly controlled seizures secondary to tuberous sclerosis. The patient was treated with antiepileptic drugs, including phenytoin, phenobarbital, and lorazepam, without improvement of symptoms. phenytoin blood levels were invariably subtherapeutic and ranged from 0.45 to 3.55 microg/mL, despite several consecutive intravenous loading doses. Surgical treatment with total resection of the brain lesions was performed as a last resort. Immunohistochemical analysis of the resected tissues revealed high levels of p-glycoprotein 170 expression, the product of the MDR1 gene. Both MDR1 gene expression and persistently low phenytoin levels likely share a common pathway liable to induce drug-resistant epilepsy.- - - - - - - - - - ranking = 5keywords = epilepsy (Clic here for more details about this article) |
4/56. Renal angiomyolipoma associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis.tuberous sclerosis complex is an autosomal-dominant disorder characterized by the triad of mental retardation, epilepsy and adenoma sebaceum. Micronodular pneumocyte hyperplasia is a rare but distinctive pulmonary epithelial lesion, usually associated with tuberous sclerosis. To the authors' knowledge, the relationship between renal angiomyolipoma and micronodular pneumocyte hyperplasia in cases of tuberous sclerosis has not received attention in the urological literature. The case of a woman with renal angiomyolipomas associated with micronodular pneumocyte hyperplasia of the lung with tuberous sclerosis is reported here.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
5/56. tuberous sclerosis: epileptogenicity and multimodal presurgical evaluations.We report on a patient with tuberous sclerosis-related epilepsy who benefited from surgical treatment. Various presurgical evaluations, including positron emission tomography (PET), made it possible for us to localize the epileptic focus accurately. In this paper, we stress the importance of performing multimodal evaluations to determine which tubers really possess epileptogenicity. In addition, the implications of PET in tuberous sclerosis-related epilepsy are described.- - - - - - - - - - ranking = 2keywords = epilepsy (Clic here for more details about this article) |
6/56. Bilateral resective epilepsy surgery in a child with tuberous sclerosis: case report.OBJECTIVE AND IMPORTANCE: Surgical intervention can reduce the burden of seizures in selected patients with tuberous sclerosis and medically refractory epilepsy. CLINICAL PRESENTATION: A child presented with tuberous sclerosis and severe epilepsy beginning in the first month of life and delayed development before 1 year of age. Video-electroencephalographic monitoring at the age of 1 year revealed a left temporal seizure focus. Repeat videoelectroencephalography at 2 years of age revealed a right posterior quadrant seizure focus. Bilateral subdural electrodes were placed, confirming independent seizure onsets from the right parietal area (overlying a tuber) and prominent interictal activity over the left superior temporal region. INTERVENTION: The right parietal focus was resected, and electrodes were maintained over the left temporal focus. After right parietal resection, ictal discharges were recorded over the left temporal region; a corticectomy was performed 2 days later. No tonicoclonic or complex partial seizures have occurred during a follow-up period of more than 24 months. Simple partial motor seizures involving the right foot have been reduced by more than 80%, and other simple partial seizures have been eliminated. Postoperatively, there has been marked improvement in the patient's cognitive and motor developmental status. CONCLUSION: In selected patients with bilateral seizure foci involving separate lobes, aggressive bilateral surgery can be safe and effective.- - - - - - - - - - ranking = 6keywords = epilepsy (Clic here for more details about this article) |
7/56. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome. We conducted a retrospective case study of the neuro-epileptic risk factors predisposing to autism spectrum disorder in individuals with tuberous sclerosis to test current neurobiological theories of autism spectrum disorder. We found that an autism spectrum disorder diagnosis was associated with the presence of cortical tubers in the temporal but not other lobes of the brain. Indeed, the presence of tubers in the temporal lobes appeared to be a necessary but not sufficient risk factor for the development of an autism spectrum disorder. However, contrary to the predictions of some theories, the location of tubers in specific regions of the temporal lobe, such as the superior temporal gyrus or the right temporal lobe, did not determine which individuals with temporal lobe tubers developed an autism spectrum disorder. Instead, outcome was associated with various indices of epileptic activity including evidence of temporal lobe epileptiform discharges on EEG, the age to onset of seizures in the first 3 years of life and a history of infantile spasms. The results indicated that individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early-onset, persistent spasm-like seizures. These risk markers constitute useful clinical indicators of prognosis, but further research is required to identify the neurobiological mechanisms responsible for their association with outcome. Most especially, it will be important to test whether, as the findings suggest, there is a critical early stage of brain maturation during which temporal lobe epilepsy perturbs the development of brain systems that underpin 'social intelligence' and possibly other cognitive skills, thereby inducing an autism spectrum disorder.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
8/56. epilepsy surgery in tuberous sclerosis: multistage procedures with bilateral or multilobar foci.Refractory seizures are common in patients with tuberous sclerosis and can contribute to developmental delay and behavioral problems. Surgical intervention can reduce the seizure burden in selected patients with tuberous sclerosis and refractory epilepsy, thereby improving cognitive function, behavior, and quality of life. However, the risks of surgery are usually considered unacceptable when the epileptogenic focus lies over dominant hemisphere eloquent cortex or is multilobar. Multistage invasive monitoring can provide detailed data regarding the location and number of ictal foci and functional extraoperative mapping can precisely delineate the boundaries of eloquent areas of the brain. If independent ictal onsets are demonstrated, a staged surgical approach can allow a more aggressive yet safe procedure in selected patients. A combination of staged resection and multiple subpial transections may provide an opportunity to treat epileptogenic foci located over eloquent cortex. Bilateral staged resections can be used when independent bihemispheric foci are present in patients with tuberous sclerosis. This article presents two cases, one of which (case 2) was previously reported, on successful multistage surgical treatment of epileptogenic foci located over an eloquent cortex or in both hemispheres in children with tuberous sclerosis. This case is represented since there is additional follow-up available and the prior report was to a neurosurgical audience. This multistage approach permitted resection of epileptogenic foci that would traditionally have been considered inoperable.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
9/56. Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children.In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ventricle from the pachygyric cortical surface plus a homogeneous clinical picture. Affected patients have early-onset drug-resistant epilepsy and severe developmental delay. We describe the clinical, genetic, neurophysiologic, and neuroradiologic characteristics of four patients affected by tuberous sclerosis and this type of cortical dysplasia these patients are of special interest because they have been operated on for their dysplastic lesions. Total control of seizures has been achieved in the three children who underwent a complete lesionectomy. This result cannot be permanent, however, because of the presence of other cortical tubers which could become epileptogenic. All things considered, our choice was to give these children at least temporary relief from severe epilepsy and possibly support for developmental progression.- - - - - - - - - - ranking = 2keywords = epilepsy (Clic here for more details about this article) |
10/56. Mechanisms of unexpected death in tuberous sclerosis.tuberous sclerosis complex is a protean autosomal dominant disorder characterized by multifocal tissue lesions arising from defects in cellular migration, proliferation, and differentiation. It has an association with sudden death. In the current study, review of all cases of sudden death due to tuberous sclerosis was undertaken at the Forensic science Centre in Adelaide, australia from 1991 to 2001, in addition to an analysis of cases from the literature. There were two local cases where unexpected death had occurred in individuals with known tuberous sclerosis, involving a 31-year-old male (epilepsy), and a 24-year-old female (massive hemorrhage into a renal angiomyolipoma). Fatal mechanisms in cases of tuberous sclerosis may be associated with underlying cardiovascular, renal and cerebral abnormalities. Sudden death may be due to cardiac arrhythmia, epilepsy, and intra-tumoral hemorrhage with additional complications including cardiac outflow obstruction, obstructive hydrocephalus, aneurysm rupture, and spontaneous pneumothorax. An awareness of the highly variable tissue manifestations of tuberous sclerosis and the mechanisms that may be responsible for death is necessary to establish correctly the diagnosis in occult cases (possibly with molecular confirmation), and to chart accurately organ changes in individuals with established disease.- - - - - - - - - - ranking = 2keywords = epilepsy (Clic here for more details about this article) |
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