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Turk Pediatri Arsivi
This study was planned with the aim of retrospectively reviewing the clinical and laboratory find... more This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observ...
Turk Pediatri Arsivi
This study was planned with the aim of retrospectively reviewing the clinical and laboratory find... more This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observ...