Dayasiri Kavinda, Thadchanamoorthy Vijayakumary, Thudugala Kaushika, Wijewardana Maheshaka
Paediatrics, Base Hospital, Mahaoya, LKA.
Clinical Sciences Department, Eastern University, Faculty of Health Care Sciences, Batticaloa, LKA.
Cureus. 2020 Dec 1;12(12):e11816. doi: 10.7759/cureus.11816.
Tuberous sclerosis (TS) is an autosomal dominant inherited disorder that affects multiple organ systems. Usually, children with TS present either with neurocutaneous stigmata or seizures during the early years of life. The mortality and morbidity are related to refractory epilepsy, giant cell astrocytoma and related complications, and multiple angiomyolipomas. The authors have reported an eleven-year-old child in whom focal status and sub-ependymal tumor were the features of the first presentation of tuberous sclerosis. The report further highlights the importance of early identification of cutaneous features by primary care providers and parents to enable early comprehensive multi-disciplinary management.
结节性硬化症（TS）是一种常染色体显性遗传性疾病，可累及多个器官系统。通常，患有TS的儿童在生命早期会出现神经皮肤体征或癫痫发作。死亡率和发病率与难治性癫痫、巨细胞星形细胞瘤及相关并发症，以及多发性血管平滑肌脂肪瘤有关。作者报告了一名11岁儿童，其首次出现结节性硬化症的特征为局灶性癫痫持续状态和室管膜下肿瘤。该报告进一步强调了初级保健提供者和家长早期识别皮肤特征对于实现早期综合多学科管理的重要性。
