Subependymal giant cell astrocytoma in the course of tuberous sclerosis – case report

Karol Jastrzębski, Jarosław Zagórski, Małgorzata Salamon, Wielisław Papierz, Andrzej Klimek

Affiliation and address for correspondence
Aktualn Neurol 2007, 7 (1), p. 49-54

Tuberous sclerosis (TS) is a progressive, dominantly inherited disorder affecting multiple organs, mainly: skin, central nervous system, kidneys, lungs, heart, eyes. This diseases is associated with mutation in two tumor suppressor genes: TSC1 and TSC2, that function as a complex to suppress signaling in the mTOR pathway. TSC1 is located on chromosome 9q34, the gene contains 23 exons and encodes hamatin. TSC2 is located on chromosome 16p13, the gene contains 41 exons and encodes tuberin. The diagnostic criteria of TS are based on the premise that there are probably no truly pathognomonic clinical sign. They were lately revised in 1998. In this paper we present a case of 32-year-old woman suffering from TS. The right diagnosis was made after 26-year course of disease, because of phenotypic variability in this disease. To our knowledge, it is the first so long observation of patient with TS after neurosurgical removal of brain tumor (histologically SEGA) and radiotherapy by cobalt. 

tuberous sclerosis, genes TSC1/2, subependymal giant cell astrocytoma, diagnostic criteria, case report

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