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Tuberous sclerosis complex; single center experience
İlknur Erol1, Tülin Savaş1, Sevda Şekerci2
1Division of Pediatric Neurology, Başkent University Adana Medical and Research Center Faculty of Medicine, Adana, Turkey.
Turk Pediatri Arsivi
|June 17, 2015
Summary
This retrospective review of 20 tuberous sclerosis complex patients found clinical signs consistent with literature. Sirolimus treatment did not significantly impact seizure frequency in patients with tuberous sclerosis complex.
Area of Science:
- Neurology
- Genetics
- Dermatology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder with multi-organ involvement.
- Accurate diagnosis and management are crucial for patient outcomes.
- The 2012 International Tuberous Sclerosis Complex Consensus Group criteria updated diagnostic standards.
Purpose of the Study:
- To retrospectively review clinical and laboratory findings in TSC patients.
- To re-evaluate TSC diagnoses using the 2012 criteria.
- To compare patient data with existing literature and assess treatment efficacy.
Main Methods:
- Retrospective chart review of 20 pediatric patients diagnosed with TSC.
- Analysis of clinical manifestations, laboratory findings, and therapies.
- Comparison of diagnoses based on 1998 and 2012 diagnostic criteria.
Main Results:
- Seizures were the most common presenting complaint (17/20 patients).
- Skin, brain, and kidney involvement were frequently observed; no cardiac involvement was noted.
- Sirolimus treatment in 9 patients, including 7 with epilepsy, showed no significant effect on seizure frequency.
Conclusions:
- Clinical presentation of reviewed TSC patients aligns with published data.
- The 2012 diagnostic criteria did not substantially alter the diagnoses of this patient cohort.
- Sirolimus demonstrated limited efficacy in managing epileptic seizures in TSC patients.
