[Tuberous sclerosis with epilepsy in monozygotic twins--a new mutation].
A 4.5-year-old female twins with tuberous sclerosis are presented. The main clinical manifestations were partial epileptic seizures with complex symptomatology. Repeated EEGs were normal in both twins, while CT scans revealed periventricular calcifications of the brain. The twins were assumed to be monozygotic, what was confirmed with laboratory findings: HLA, identical erythrocyte, enzymatic and protein antigens were found. Skin transplant exchange was not performed. Since both parents do not have any signs of tuberous sclerosis, in this case the disease which is otherwise inherited as an autosomal dominant trait most probably was due to a new mutation which had occurred.
Zupancic
V
V
Klinika za djecje bolesti, Medicinski fakultet Sveucilista u Zagrebu.
Skarpa
D
D
Sabol
Z
Z
Macolić
V
V
D002675:Child, Preschool; D004200:Diseases in Twins; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics*; D014430:Twins, Monozygotic
Tuberozna skleroza s epilepsijom u monozigotnih blizanki--nova mutacija.