1/89. A case of West syndrome well controlled by very short and low-dose ACTH therapy.The case of a 5-month-old boy with tuberous sclerosis and West syndrome is reported. Tonic spasms were noted from the age of 4 months. High-dose pyridoxal phosphate could not control the seizures completely. Very short and low-dose adrenocorticotropic hormone (ACTH) therapy (i.e. 0.011 mg/kg per dose, 12 times in 20 days) controlled the seizures, while pyridoxal phosphate was on. Early tapering of ACTH was successfully done while abnormal electroencephalogram (EEG) findings remained. Although side effects such as hypertension and brain shrinkage were transiently observed, both the cognitive and seizure prognoses were excellent at the age of 3 years and 2 months. The good response to a small dosage of ACTH might be due to some responsiveness of the high-dose pyridoxal phosphate and the underlying cause of tuberous sclerosis with normal development before onset. The present case illustrates that the duration and dosage of ACTH therapy in West syndrome should be modified according to the individual's requirements.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/89. Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas.tuberous sclerosis (TSC) is a dominantly inherited disorder due to mutations at two gene loci, the TSC1 locus on chromosome 9q34 and the TSC2 locus on chromosome 16p13.3. The TSC2 and the TSC1 genes have now been cloned, enabling mutation analysis. We report results of mutation analysis in a sporadic case of TSC first identified in intra-uterine life on the basis of the presence of cardiac rhabdomyomas. Postnatally this infant was also found to have subependymal nodules on brain computed tomographic scan. Hypomelanotic macules were not detected neonatally or at 12 months of age. The specific TSC1 exon 15 mutation found in our patient has not previously been reported in cases of TSC. This mutation involves duplication of a 23-bp segment of dna between two 9-bp repeated sequence elements within exon 15. These repeat elements are located between nucleotides 1892-1900 and between nucleotides 1915-1923 within the TSC1 gene sequence. It is likely that the presence of these two repeated elements predisposes to misalignment of dna strands and unequal crossing over. The mechanism of origin of rhabdomyomas in TSC is reviewed. loss of heterozygosity in the TSC gene regions has been reported in cardiac rhabdomyomas; however, these lesions are self-limiting in their growth. The basis for this self limiting proliferation is not clear. One interesting postulation is that cardiac rhabdomyomas may be due to delay or failure of apoptosis which occurs as part of the normal remodeling process in the heart.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/89. 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 = 1keywords = brain (Clic here for more details about this article) |
4/89. Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.- - - - - - - - - - ranking = 1.3059670110632keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
5/89. Recognizing an index case of tuberous sclerosis.tuberous sclerosis is the most common neurocutaneous syndrome after neurofibromatosis. Dermatologic manifestations may be the only clues the family physician has to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. Characteristic signs of tuberous sclerosis vary widely in severity and can include hypopigmented "ash-leaf spots," fibrous plaques on the forehead, angiofibromas on the face (adenoma sebaceum), a shagreen patch on the lower back and fibromas of the nails. Computed tomographic scanning or magnetic resonance imaging reveal subependymal nodules or cortical "tubers" in the brain. Associated cardiac, retinal, renal and pulmonary pathology can increase morbidity and mortality. genetic counseling is helpful but has limited use because of the variation in genetic expression and the frequency of new gene mutations that cause this disorder.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/89. Infantile tuberous sclerosis changes in the brain: proton MR spectroscopy findings.A parietal hamartoma of a three-month-old boy with tuberous sclerosis was studied with magnetic resonance (MR) imaging, and proton MR spectroscopy. MR spectra were obtained with the single-voxel PRESS (point resolved spectroscopy; TR = 1500 ms, TE = 135 ms) sequence, in a 8 cc region of interest. Apparently low NAA/Cho (0.28), and NAA/Cr (0.37) ratios were noted in the hamartoma, that could suggest a neoplasm. The lesion and the surrounding brain tissue were studied again after seven months with spectroscopic imaging using the chemical shift sequence (TR = 1500 ms. TE = 40 ms). This study revealed apparently improved NAA/Cho (2.63), NAA/Cr (2.13) ratios in the hamartoma compared to the initial examination at three months of age, excluding the possibility of a neoplasm.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
7/89. Intracardiac tumour and brain lesions in tuberous sclerosis. A case report of antenatal diagnosis by ultrasonography.A case of antenatal tuberous sclerosis was diagnosed by ultrasonography. Intracardiac tumour (highly suspected rhabdomyoma) with transitory heart failure and multiple brain lesions were observed. After delivery, echocardiography, spiral CT and MR imaging diagnosis of tuberous sclerosis was confirmed by typical skin lesions (depigmented macules) and development of seizures.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
8/89. MRI spectrum of cortical malformations in tuberous sclerosis complex.The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/89. Renal cell carcinoma as significant manifestation of tuberous sclerosis complex.We present a case of renal cell carcinoma diagnosed in 1982; aged 20 years. Regular follow up of the abdomen by USG noted first the presence of 2 nodules in the remaining kidney in 1994, age 30 and more lesions in 1997, aged 35. These were suspected to be angiomyolipomas on USG. The radiologist on this basis raised the question of tuberous sclerosis. Subsequent evaluation by internist/neurologist showed few adenoma sebaceum lesions a single ash leaf macule, a shagreen patch on the back, and characteristic multiple subependymal calcifications diagnostic of tuberous sclerosis on CT scan brain. The mentation was normal, there was history of only a single fit in childhood. The renal cell carcinoma was thus the first significant manifestation of tuberous sclerosis complex (TSC).- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/89. 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 = 4keywords = brain (Clic here for more details about this article) |
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