Reviewing of Tuberous Sclerosis Complex: Single Center Experience

INTRODUCTION: The aim of the study is to review the clinical features and treatment of the tuberous sclerosis complex patients followed up in our hospital and to discuss the findings with the literature.
METHODS: Clinical-laboratory findings and treatment of 15 tuberous sclerosis patients who applied to the child neurology policlinic between 2007-2017 were retrospectively reviewed.
RESULTS: 15 patients aged between 8 months–17 years were included in the study. Female/male ratio was 47/53. Thirteen patients (86%) referred with convulsions, 7% with skin hypo-pigmented macule and 7% with detection of a renal cyst in the ultrasonography. At the time of the diagnosis, skin findings were present in 93% of the patients. There were infantile spasms in 23%, focal seizures in 54%, generalized tonic-clonic in 15% and atonic seizures in 8% of the patients who referred with seizures. In addition to the known antiepileptics in treatment, m TOR inhibitors were used in two patients. Forty percent was diagnosed with resistant epilepsy. Seven of the patients (46%) had various levels of mental retardation. There were cardiac findings in 33the %, ocular findings in 33%, renal involvement in 27% of the patients. The most common (87%) neuroradiologic finding was subepandymal nodule.
DISCUSSION AND CONCLUSION: It was observed that the signs and symptoms of our patients were compatible with the literature. In childhood, refractory epilepsy and mental retardation were the most important clinical findings. The age of onset of seizures in patients with resistant epilepsy was under one year of age. These patients had infantile spasms and larger number of cortical tubers in cranial MRI findings. It was observed that evorolimus treatment had no marked effect on the seizure frequency. However, patients with tuberous sclerosis should be closely monitored for the development of malignancies in the long term and the monitoring should be to continue in adulthood.