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.
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