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Neuroimaging in tuberous sclerosis complex
Child's Nervous System, 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.Neuroimaging is crucial for ...
Camilla Russo +5 more
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2018
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
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Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Epilepsia Open, 2019 To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC)
Rima Nabbout +2 more
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Autism in Tuberous Sclerosis Complex
Journal of Autism and Developmental Disorders, 1998The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD).
G C, Gutierrez +2 more
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The Neurobiology of the Tuberous Sclerosis Complex
NeuroMolecular Medicine, 2006Tuberous sclerosis complex (TSC) is a multisystem disorder that affects numerous organ systems. Brain lesions that form during development, known as tubers, are highly associated with epilepsy, cognitive disability, and autism. Following the identification of two genes and their encoded proteins, TSC1 (hamartin) and TSC2 (tuberin), responsible for TSC,
Leah, Marcotte, Peter B, Crino
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Neuroimaging in tuberous sclerosis complex
Current Opinion in Neurology, 2007In this review we discuss recent advances in the neuroimaging of patients with tuberous sclerosis complex (TSC), highlighting its application in improving clinical management, particularly in the case of intractable epilepsy.Progress in structural and functional imaging has led to further characterization of the brain lesions in TSC.
Aimee F, Luat +2 more
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Diagnosis of tuberous sclerosis complex
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2015Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made.
E D, Belousova +3 more
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Tuberous Sclerosis Complex in Children
Archives of Pediatrics & Adolescent Medicine, 1981Of 62 children seen at The Hospital for Sick Children, Toronto, who had tuberous sclerosis (TS), 58 had a history of seizures (developing during the first year of life in 37) and mental retardation was diagnosed in 51. Classic congenital hypopigmented patches were present in 42 and adenoma sebaceum occurred in 26 of the patients.
H P, Monaghan +3 more
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Hemimegalencephaly in Tuberous Sclerosis Complex
Journal of Child Neurology, 2002The purpose of this case report is to describe the computed tomographic and magnetic resonance imaging findings of the brain of a 16-month-old girl with an uncommon association between hemimegalencephaly and tuberous sclerosis complex. When a large calcification is found within a hemimegalencephalic cerebral hemisphere, further investigation of a ...
Paolo, Galluzzi +5 more
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Tuberous Sclerosis Complex: A Review
Journal of Pediatric Health Care, 2007Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex
Alexander K C, Leung, W Lane M, Robson
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