1/52. 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 = sclerosis (Clic here for more details about this article) |
2/52. 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 = 0.875keywords = sclerosis (Clic here for more details about this article) |
3/52. Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature.The nevus sebaceus syndrome (NSS) is a neurocutaneous disorder characterized by unilateral hyperplasia of skin appendages and skeletal hemihypertrophy, hemimegalencephaly, or hemiatrophy along with disabling seizures. Despite the proneness of the dermal stigmata to eventually undergo neoplastic transformation, the malformative lesions of the central nervous system rarely evolve into frank tumors. We present the case of a 10-year-old girl with left-sided sebaceus nevi, ipsilateral enlargement of the skull, and a desmoplastic neuroepithelial tumor (DNET) in the right fronto-parietal area of the brain. The tumor was removed by surgery. Histologically, it corresponded to a mitotically active small-cell anaplastic astrocytoma with genuine desmoplasia. Investigative methods included immunohistochemical positivity for glial fibrillary acidic protein, lack of expression of neuronal markers, and ultrastructural documentation of sheaths of basal lamina and collagen around tumor cells. A survey of the literature of brain tumors associated with NSS revealed two cases of histologically verified pilocytic astrocytomas, and one each of a choroid plexus papilloma, a mixed glioma, and a meningioma, as well as a subependymal giant cell astrocytoma--the latter possibly in an overlap syndrome of NSS and tuberous sclerosis. We hypothesize that the tumor described herein, one involving both atypical differentiation and enhanced growth potential, is paradigmatic of neuropathological events to be expected in the NSS.- - - - - - - - - - ranking = 0.125keywords = sclerosis (Clic here for more details about this article) |
4/52. 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 = 0.75keywords = sclerosis (Clic here for more details about this article) |
5/52. Intractable epilepsy following radiosurgery for arteriovenous malformation.radiosurgery is often used to treat arteriovenous malformations (AVMs) located in deep brain locations. Most of these procedures are successful not only in obliterating the AVM but also in decreasing the frequency and severity of associated seizures. Although radiosurgery is occasionally associated with the development of easy-to-control seizures immediately postoperatively, there have been no reports of intractable epilepsy developing after radiosurgery. In this report, however, a case is presented in which a patient underwent gamma knife surgery (GKS) for an AVM, after which intractable epilepsy and mesial temporal sclerosis (MTS) gradually developed. A 37-year-old right-handed woman underwent GKS for a right mesial parietotemporooccipital AVM. One year later, the AVM had reduced in size, but the patient began to experience complex partial seizures (CPSs). These CPSs initially occurred at a frequency of one per month, but 6 months later they were occurring every other week. She also started having secondarily generalized tonic-clonic seizures (GTCSs) once per month. Over the next year the frequency of her seizures gradually increased to several CPSs per day and two to three GTCSs per week, despite treatment with various combinations of antiepileptic drugs. By this time her AVM had decreased to one half of its original size. Video-electroencephalography monitoring demonstrated that both the CPSs and GTCSs were arising from the right posterior quadrant. magnetic resonance imaging revealed not only the presence of the right-sided AVM, but also right-sided MTS. The patient underwent surgical resection of the AVM and right temporal lobectomy. She has been free from seizure for longer than 1 year. radiosurgery may be associated with intractable epilepsy and MTS.- - - - - - - - - - ranking = 0.125keywords = sclerosis (Clic here for more details about this article) |
6/52. A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.Hereditary spastic paraparesis (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterised by progressive lower limb spasticity and weakness. Some forms have been associated with white matter lesions and complex phenotypes. This study was prompted by the diagnosis of multiple sclerosis (MS) in two sisters from a large pedigree with hereditary spastic paraparesis. Twelve affected members of the extended family were examined (MRI and EEG were carried out and evoked potentials measured in five), and historical information was obtained from six affected deceased persons. The inherited disease phenotype was confirmed as autosomal dominant hereditary spastic paraparesis associated with epilepsy in four affected persons. None of the extended family had evidence of MS. Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10. This kindred demonstrates the clinical heterogeneity of HSP associated with spastin mutations. The possible relevance of the concurrence of HSP and MS in the sib pair is discussed.- - - - - - - - - - ranking = 0.625keywords = sclerosis (Clic here for more details about this article) |
7/52. 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 = 0.875keywords = sclerosis (Clic here for more details about this article) |
8/52. Cavernous angioma associated with ipsilateral hippocampal sclerosis.We report two cases with extratemporal cavernous angioma (CA) and coexisting ipsilateral hippocampal sclerosis. Classically dual pathology is defined as the association of hippocampal sclerosis with an extrahippocampal lesion. Subtle changes in hippocampus might be overlooked in the presence of an unequivocal extrahippocampal abnormality. Seizure outcome after epilepsy surgery in cases with dual pathology is less favourable if only one of the lesions is removed. Dual pathology must always be considered in diagnostic imaging of patients with intractable epilepsy and CA.- - - - - - - - - - ranking = 0.75keywords = sclerosis (Clic here for more details about this article) |
9/52. 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 = 0.75keywords = sclerosis (Clic here for more details about this article) |
10/52. epilepsy, atherosclerosis, myocardial infarction, and carbamazepine.Epileptic patients receiving medications such as phenytoin or phenobarbital have been noted to have an exceedingly low incidence of myocardial infarction, but children treated with carbamazepine have shown alteration of their serum lipid profile that could predispose them to atherosclerosis. This report seems to corroborate this point and describes the findings in an 11-year-old boy who died following a major seizure, rhabdomyolysis, and renal failure. The autopsy demonstrated that he had marked coronary atherosclerosis and myocardial infarction. The child had been treated with carbamazepine for more than 10 years.- - - - - - - - - - ranking = 0.75keywords = sclerosis (Clic here for more details about this article) |
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