Neurologic manifestations of tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a multiorgan disorder that primarily affects the brain, skin, and kidneys. Recent advances have elucidated the genetics of this complex, which has helped lead to an increased understanding of the basic neurobiology of this disorder. There is both phenotypic and geneotypic heterogeneity. The treatment of epilepsy remains a major challenge in these patients, and there is an increasing role for epileptic surgery. Many patients with TSC continue to have intractable seizures. Early identification to ensure proper monitoring and genetic counseling continue to be important clinically. The neurologist must be aware of other organ involvement, particularly the kidneys, and the lungs in female patients, to ensure appropriate monitoring for complications. It is also important to be aware of the marked variability of expression in all the clinical features of TSC.
McClintock
William M
WM
Department of Neurology, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA. wmcclint@cnmc.org
D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007668:Kidney / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008967:Molecular Biology / Q000379:methods; D012867:Skin / Q000503:physiopathology*; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology*