What is your diagnosis? Multiple rhabdomyoma of the heart and disorder of neuronal migration in the brain (precursor to cortical tuber) as a part ot the tuberous sclerosis syndrome
2011
Abstract
Multiple rabdomyom heart failure and neuronal migration in the brain (cortical tuber precursor) as part of the syndrome, tuberous sclerosis sklerózy.Tuberózní (Tuberous Sclerosis Complex TSC) is a genetic disease with autosomal dominant inheritance and the reported incidence of approximately 1/6000-10000 live born fetuses. Manifested by the formation hamarcií and benign tumors affecting multiple organ systems.
It is caused by mutations in one of two tumor-suppressor genes: TSC1 encoding hamartin protein and TSC2 encoding tuberin protein that has functional homology with GTPases activating protein. Clinical and pathological phenotype of the syndrome in various mutations of either of these genes differ.