Affiliations: Department of Pediatric Neurology, Faculty of
Medicine, Harran University, Sanliurfa, Turkey | Department of Pediatric Neurology, Faculty of
Medicine, Dokuz Eylül University, Izmir, Turkey
Abstract: We aimed to define clinical characteristics and laboratory findings
of tuberous sclerosis in 17 patients. Age at presentation varied from 5 days to
13 years. Male to female ratio was 10/7. Genetic transmission was documented in
23.5% of cases. The most frequent presentation of the disease, hypomelanotic
macules were seen in 94.1% (clinically visible in 15 subjects and visible with
Wood's light in 1 subject). Amongst skin manifestations facial angiofibromas
were seen in 41.2%, forehead plaque in 5.9%, Shagreen patches in 23.5%.
Brain involvement was documented in 94.1% of cases: subependymal nodules in
94.1%, cortical tubers in 76.5%. Seizures occured in 88.2% of the patients.
The relative frequency of infantile spasms within all patients with symptomatic
epilepsy was 26.7%. Cardiac rhabdomyoma was found in 37.5% of the patients,
renal angiomyolipoma in 35.3%, retinal hamartoma in 33.3%, and hepatic
angiomyolipoma in 33.3%. Up to one-half of all patients had normal
intelligence and normal motor development. A large profile of neurological
disability changing from a normal condition to a severe motor-mental
retardation was noted in pediatric patients with tuberous sclerosis. Almost all
of cases with motor-mental retardation had also epileptic seizures. The
relative frequency of infantile spasms as compared with all kind of epilepsy
was 26.7%. In addition to typical features of the disease several atypical
manifestations such as autism, choreathetosis and hemangioma like cutaneous
lesion were noted in this series.