Centro Regionale Esperto Siringomielia e Sindrome di Chiari (CRESSC), Dipartimento di Neuroscienze, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
Neurochirurgia, Università degli Studi di Torino, Turin, Italy.
Ann Ist Super Sanita. 2020 Jan-Mar;56(1):48-58. doi: 10.4415/ANN_20_01_08.
Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments.
We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms.
An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d'Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d'Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence.
436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic forms). Finally, symptoms and signs, familiar and natural history were analyzed.
First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.
脊髓空洞症和 Chiari 综合征被归类为罕见病，但目前在欧洲的发病情况尚不清楚。磁共振成像（MRI）诊断这些疾病的能力不断提高，且其应用日益广泛，导致报告的病例数量增加，其中许多为无症状病例，因此需要对这些疾病的定义、诊断标准和治疗方法进行标准化。
我们提出了区域间共享建议，旨在估算意大利西北部脊髓空洞症和 Chiari 综合征的患病率和发病率，特别是有症状的形式。
皮埃蒙特和瓦莱达奥斯塔 Chiari 脊髓空洞症多学科区域间联盟（德尔菲法）达成了关于定义、分类、诊断标准和手术建议标准化的协议；接下来，在 2011 年，通过皮埃蒙特和瓦莱达奥斯塔罕见病登记处进行了脊髓空洞症和 Chiari 畸形的普查，登记处使用了专门的表格，以估计患病率和发病率。
436 名患者，292 名女性，符合区域间共享诊断标准。脊髓空洞症的患病率估计为 4.84:100000；Chiari 畸形的患病率为 7.74:100000；发病率分别为 0.82:100000 和 3.08:100000。报告了人口统计学、神经影像学参数和病因（有症状和无症状形式）。最后，分析了症状和体征、家族史和自然病史。
根据共享的诊断建议，收集了意大利首例 Chiari 和脊髓空洞症的流行病学数据（患病率、发病率）。未来的研究方向包括在全国范围内采用这些建议，以标准化诊断和治疗过程，并促进多中心临床试验。
