Neurologic manifestations of tuberous sclerosis complex

Abstract

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.

Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior

“…TS is characterized by benign hamartomas in multiple organs, but neurological involvement is common and debilitating. Patients may experience seizures (70–90%), intellectual disability (50%), autism (25–50%), and sleep disturbances (McClintock, 2002). Hamartomas in the brain were thought to cause the neurological symptoms, but the extent of hamartomas does not necessarily correlate with the severity of neurological impairment (Wong and Khong, 2006).…”

Esclerosis tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo

“…Nuestros resultados confirman la existencia de una correlación positiva entre el retraso en el desarrollo psicomotor (RDPM) y la epilepsia, presentándose una epilepsia con inicio en el primer año y evolución para epilepsia refractaria en todos casos de retraso cognitivo grave 9 . Por otro lado, en nuestra muestra se han encontrado casos de espasmos epilépticos precoces y epilepsia refractaria sin RDPM.…”

“…La epilepsia y el retraso cognitivo están comúnmente asociados a lesiones cerebrales, incluyendo hamartomas glioneuronales (también llamados tuberomas), lesiones de la sustancia blanca y astrocitomas de células gigantes subependimarios 9 .…”

Tuberous sclerosis complex: everything old is new again

“…Epilepsy is seen in up to 90% of all patients with TSC during their lifetime [3]. This extraordinary prevalence affects all aspects of brain dysfunction in TSC and highly impacts the quality of life of these patients as well as their families.…”