Typically diagnosed in early childhood or adolescence, TSC is a chronic, multisystemic disorder with age-dependent manifestations posing a challenge for transition and for specific surveillance throughout the lifetime. Data on the clinical features and severity of TSC in adults and on the prognosis of epilepsy are scarce. We analyzed the clinical and genetic features of a cohort of adult patients with TSC, to identify the prognostic predictors of seizure remission after a long follow-up. We conducted a retrospective analysis of patients diagnosed with TSC according to the updated international diagnostic criteria. Pearson’s chi-square or Fisher’s exact test and Mann Whitney test were used to compare variables among the Remission (R) and Non-Remission (NR) group. Univariate and multivariate logistic regression analyses were performed. We selected 43 patients with TSC and neurological involvement in terms of epilepsy and/or brain lesions, attending the Epilepsy Center of our Institute: of them, 16 (37.2%) were transitioning from the pediatric care and 6 (13.9%) were referred by other specialists. Multiorgan involvement includes cutaneous (86.0%), nephrological (70.7%), hepatic (40.0%), ocular (34.3%), pneumological (28.6%) and cardiac (26.3%) manifestations. In our cohort of adult patients with TSC, epilepsy remains one of the main neurological challenges with only 5.3% of cases manifesting in adulthood. Approximately 64% of these patients failed to achieve seizure remission. ID and multiple seizure types were the main predictors of poor outcome. Nephrological manifestations require continuous specific follow-up in adults.

中文翻译：

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成年期结节性硬化症：关注癫痫预后

TSC 通常在儿童早期或青春期诊断，是一种慢性、多系统疾病，具有年龄依赖性表现，对过渡和整个一生的具体监测提出了挑战。关于成人 TSC 的临床特征和严重程度以及癫痫预后的数据很少。我们分析了一组 TSC 成年患者的临床和遗传特征，以确定长期随访后癫痫发作缓解的预后预测因素。我们根据更新的国际诊断标准对诊断为 TSC 的患者进行了回顾性分析。 Pearson 卡方检验或 Fisher 精确检验和 Mann Whitney 检验用于比较缓解 (R) 组和非缓解 (NR) 组之间的变量。进行单变量和多变量逻辑回归分析。我们选择了就诊于我们研究所癫痫中心的 43 名患有 TSC 且患有癫痫和/或脑损伤的神经系统受累的患者：其中 16 名 (37.2%) 正在从儿科护理过渡，6 名 (13.9%) 是由儿科转诊的其他专家。多器官受累包括皮肤（86.0%）、肾脏（70.7%）、肝脏（40.0%）、眼部（34.3%）、呼吸系统（28.6%）和心脏（26.3%）表现。在我们的 TSC 成年患者队列中，癫痫仍然是主要的神经系统挑战之一，只有 5.3% 的病例在成年期表现出来。这些患者中大约 64% 的癫痫发作未能缓解。 ID 和多种癫痫发作类型是预后不良的主要预测因素。成人的肾病表现需要持续的具体随访。