Tuberous Sclerosis as an Interdisciplinary Problem in Neuropediatrics (Scientific Review and Personal Observations)

S.K. Yevtushenko, D.A. Hahara

Abstract


Tuberous sclerosis — one of the forms of monogenic hereditary diseases related to neurocutaneous syndromes (phakomatoses). Difficulties in the diagnosis of phacomatosis are associated with significant clinical polymorphism and age-dependent onset of symptoms. The article provides information on the origin, prevalence and clinical manifestations of tuberous sclerosis in children. Personal clinical observations of children with severe course of this disease due to early onset of neurological symptoms, intracardiac rhabdomyoma and skin manifestations are presented.


Keywords


children; seizures; tuberous sclerosis; skin depigmentation; rhabdomyoma

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DOI: https://doi.org/10.22141/2224-0713.6.76.2015.78069

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