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Vigabatrin for tuberous sclerosis complex
Brain and Development, 2001Vigabatrin (VGB) was found to be an effective anti-epileptic drug to reduce infantile spasms in about 50% of patients and it has been found most effective in infantile spasms due to tuberous sclerosis (TSC) in which up to 95% of infants had complete cessation of their spasms.
P, Curatolo +2 more
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Lymphedema in tuberous sclerosis complex
American Journal of Medical Genetics Part A, 2014Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway.
Alexandra L, Geffrey +4 more
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Epilepsy in Tuberous Sclerosis Complex
2012Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem disorder, characterized by the presence of hamartomatous lesions involving different organ systems, including the brain. Epilepsy is the most common presenting symptom, representing a major source of morbidity and mortality.
Novegno, Federica +2 more
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The Neurobiology of Tuberous Sclerosis Complex
Seminars in Pediatric Neurology, 2006Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism.
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Dynamic tubers in tuberous sclerosis complex
Neurology, 2015Tuberous sclerosis complex (TSC) has a rich history and special place in Neurology given its myriad and multiorgan manifestations that have intrigued physicians for more than 100 years.1 Within the brain, the eponymic “tubers” and subependymal giant cell astrocytomas are the main clinically relevant manifestations.
Kevin C, Ess, Harry T, Chugani
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Unusual Presentation of Tuberous Sclerosis Complex
Urology, 2012A 47-year-old woman presented with acute abdominal pain, hematuria, signs of hemorrhagic shock and presence of a palpable mass in the right hypochondria at physical examination. Total body computed tomography showed bilateral renal angiomyolipoma (AML), voluminous abdominal mass of annexial origin, pulmonary lymphangioleiomyomatosis (LAM), and multiple
Favilla V +7 more
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Tuberous Sclerosis Complex: A Review
Pediatric Annals, 2017Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys.
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History of the tuberous sclerosis complex
Brain and Development, 1995How the concept of the tuberous sclerosis complex (TSC) has developed over a period of time spanning 160 years has come form simple clinical observations, pathological studies and technological advances of imaging methods. It all began with PFO Rayer's color plate of a drawing of a patient who apparently had facial angiofibroma, published in the year ...
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