گزارش 40 مورد تو بروز اسكلروزيس در بيمارستان كودكان مفيد تهران

Report of 40 Cases of Tuberous Sclerosis in Tehran Mofid Childrenʹs Hospital

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 childrenʹs hospital between, 1997 to 2000 (20 males ana 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 hammarfoma and 3 had brain tumor. The combination of depigmented areas of skin, siezure disorder and delayed development are diagnostic for T.S.