گزارش 40 مورد توبروزاسکلروزیس در بیمارستان کودکان مفید تهران

          Tuberous Sclerosis (T.S) , an autosomal dominant disorder is one of the     major neurocutanous diseases with the involvement of many other organs .           In this retrospective cross sectional study, 40 cases of T.S  have been    followed up in the department of pediatric neurology in Tehran Mofid    children’s hospital between, 1997 to 2000 (20 males and 20 females). All    patients suffered from seizure disorder and upon admission had extensive    paraclinical investigations including biochemical, electorgraphic and    neuroimaging, studies. In view of ophthalmic and cardiac involvement in a    remarkable portion of T.S patients, we consulted cardiologists and    ophthalmologists .           In this report , neurologic, ophthalmic, cardiac and skin manifestations    of T.S mental retardation and seizure disorder which are the most common    neuroclinical symptomatologies have been described. Also in the present    article, the varieties of seizures and EEG patterns in these patients have    been discussed. All T.S patients had hypopigmentation areas. Of these 37    had preventricular Calcification , 30 were diagnosed having subnormal    mentation , 8 suffered from aterial rhabdomyoma , 7 adenoma sebaceus , 5    shagreen patch , 5 retinal hammartoma and 3 had brain tumor.           The combination of depigmented areas of skin, siezure disorder and    delayed development are diagnostic for T.S.