Objective. To evaluate the clinical manifestation and its frequency in children with tuberous sclerosis complex and to compare with literature data.
Material and methods. A retrospective data analysis of children with clinically or genetically diagnosed Tuberous sclerosis complex in Vilnius University Santariskiu Clinics Children Hospital.
Results. Tuberous sclerosis complex was diagnosed in 22 patients. Only 5 of the 22 observed patients were tested for mutation in TSC1 and TSC2 genes. One patient had pathological TSC2 gene mutation. TSC1 gene mutation was found in two patients and two patients had neither of two mutations, although the diagnosis was confirmed clinlcally. In 87% of cases seizure was the first documented symptom. Epilepsy was diagnosed in all followed patients (21 cases). Generalized seizures were seen in 14% of patients. 67% of patients had focal seizures, nearly half it was the first epileptic seizure type with manifestation. 43% of the cases suffered epileptic spasms with median age of 6 months (4-12 months) at onset. 1 patient was diagnosed with subependymal giant cell astrocytoma. Development was evaluated in 13 patients (62%), in 77% cases developmental delay was observed. Cardiac rhabdomyomas were seen in 7 cases (32%), with 3 (13%) diagnosed prenataly. 17 (77%) patients had various skin lesions characteristic to tuberous sclerosis complex: hypomelanotic macules in 15 cases (68%), multiple facial angiofibromas in 6 patients (27%).
Conclusions. Compared with data from the literature, a greater proportion of patients had epilepsy and angiofibromas were less frequent than expected. It is likely that mild tuberous sclerosis complex cases without seizures and especially without epileptic spasms remain undiagnosed, and patients are not followed up according to Tuberous sclerosis complex Alliance recommendations. The actual frequency of TSC1 and TSC2 genes mutations in Lithuanian population remain obscure.
