Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients

OBJECTIVE: Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. MATERIALS & METHODS: Based on the diagnostic criteria, totally 81 tuberous sclerosis patients with sufficient data were enrolled into the study. These children were referred by child neurologists. RESULTS: The mean age of the patients was 52 months (range, 7-180 months). There were 28 girls and 53 boys. A positive familial history of TSC was seen in 29.6% of the patients. Hypo pigmented macules were the most common manifestation (82.7%). Facial angiofibroma, shagreen patches, café-au-lait lesions and seizure were observed in 32.1%, 12.3%, 7.4%. and 74.1% of the studied cases, respectively. Infantile spasm was present in the clinical course of 32.1 % of the patients. Cortical tubers were the most common MRI finding which were seen in 21 cases (25.9%). Subepandymal giant cell astrocytoma was seen in four (4.9%) patients and intracranial calcification (detected by CT scan) was observed in 18 (22.2%) of the patients. CONCLUSION: Dermatological and neurological findings were the most common symptoms in tuberous sclerosis with a significant correlation between them. Thus, careful skin examination is necessary in epileptic patients for detection of the mentioned lesions.