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Indexed/Abstracted in: BIOSIS Previews, EMBASE, Scopus, Emerging Sources Citation Index
Online ISSN 1827-1812
Pellicanò S. 1, Siciliani A. 1, Calzone R. 2, De Biasi G. 3, Mauro R. 2, Pontieri F. 4, Vero S. 1
1 U.O. Radiologia, Regione Calabria, P.O.”S.Giovanni di Dio”,Crotone;
2 Dietista, Regione Calabria, P.O."S.Giovanni di Dio",Crotone;
3 Servizio di Medicina Nucleare, Regione Calabria, P.O.”S.Giovanni di Dio”,Crotone;
4 Servizio di Anatomia Patologica, Regione Calabria, P.O.”Giovanni di Dio”, Crotone
Tuberous sclerosis is an autosomal dominant genetic disorder characterized by abnormal cellular differentiation and proliferation as well as abnormal neuronal migration. Two genes have been shown to be responsible for this disease: TSC1, on chromosome 9q34, and TSC2, on chromosome 16p13.3 encoding a protein called hamartin and tuberin respectively. The molecular mechanism for her development remains elusive but genetic data suggest that pulmonary lymphangiomyomatosis is the result of metastasis of benign cells a highly unusual pathogenetic mechanism. Commonly recognized clinical features include seizures,delayed development,hypomelanotic skin macules, facial angiofibromas,perlungual fibromas, multiple tumors called hamartomas in different seats as skin,brain,heart,eyes,kidney,lung,liver with severe complications also.
The diagnosis is based on clinical and radiologic criteria on echography, CAT and NMR. An extremely rare case of giant angiomyolipoma in the absence of demonstrable hematologic renal alterations is described.