Almobarak Sulaiman, Almuhaizea Mohammad, Abukhaled Musaad, Alyamani Suad, Dabbagh Omar, Chedrawi Aziza, Khan Sameena, Aldhalaan Hesham
King Faisal Specialist Hospital & Research Center Riyadh, Riyadh Saudi Arabia.
Department of Neuroscience, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Transl Neurosci. 2018 Nov 12;9:154-160. doi: 10.1515/tnsci-2018-0023. eCollection 2018.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% of patients, symptoms began before 1 year of age. The most frequent initial manifestations of TSC were new onset of seizures (68.2%), skin manifestations (46.6%) and development delay (23.9%). During the evolution of the disease 65.9% had epilepsy, 17% facial angiofibromas, 13.6% Shagreen patch, 18.2% heart rhabdomyomas and 12.5% retinal hamartomas. The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive gene mutation in their relative with TSC. The most common manifestations were central nervous system (predominantly epilepsy) and dermatological manifestations. Most of the patients develop epilepsy with multiple seizure types. TSC 2 mutation is more common than TSC 1 mutation.
结节性硬化症（TSC）是一种常染色体显性遗传的神经皮肤疾病，临床表现具有异质性。我们旨在回顾沙特人群中TSC的临床表现及其与癫痫的关联。这是一项对88例确诊为TSC的患者（无论有无癫痫）进行的回顾性病历审查研究。38.6%的患者在1岁前出现症状。TSC最常见的初始表现为新发癫痫（68.2%）、皮肤表现（46.6%）和发育迟缓（23.9%）。在疾病进展过程中，65.9%的患者患有癫痫，17%有面部血管纤维瘤，13.6%有鲨革斑，18.2%有心脏横纹肌瘤，12.5%有视网膜错构瘤。对44例患者进行了TSC诊断的基因研究，其中42例（95.4%）得到基因确诊，其中13例患者有TSC1突变（29.5%），29例患者携带TSC2基因突变（65.9%），2例患者（4.5%）的TSC1和TSC2基因检测为阴性，尽管其亲属有TSC基因突变。最常见的表现为中枢神经系统（主要是癫痫）和皮肤表现。大多数患者患有多种发作类型的癫痫。TSC2突变比TSC1突变更常见。
