Incidence, clinical presentation and imaging findings of cavernous malformations of the CNS A twenty-year experience
Incidence, clinical presentation and imaging findings of cavernous malformations of the CNS A twenty-year experience
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DOI：
10.4414/smw.2011.13172
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发表时间：
2011-04-13
影响因子：
2.9
通讯作者：
Schroth, Gerhard
中科院分区：
文献类型：
--
作者：
El-Koussy, Marwan;Stepper, Frank;Schroth, Gerhard
研究中的问题：高达88%的中枢神经系统海绵状畸形(CMS)可以出现症状并导致长期残疾。方法：回顾分析近20年来新发现的CMS病例及其家族表型。结果：1985-2004年间共调查347例CMS患者。队列包括大约75%的有症状的CM病例。每年每10万居民中新诊断的有症状和无症状病例分别为1.31例和0.55例。确诊症状性CMS的平均年龄为36岁(范围：新生儿至79岁)。有急性出血证据的患者(28%)略多于癫痫患者(26%)。颅内病变多位于幕上(54%)。病变大小多在3 cm以下(0.2~8 cm)。有症状CMS(平均1.75 cm)显著大于无症状CMS(平均0.91 cm)(p<；0.0001)。与医学文献相比，多发性CMS的发生率相对较高(18.9%)，其中家族性CMS更常见(62%)。结论：CM的观察频率，包括单个个体的多个病变以及这种病变的家族性形式，与医学文献相比似乎相对较高。
QUESTIONS UNDER STUDY: Up to 88% of cavernous malformations (CMs) of the central nervous system can become symptomatic and cause long-term disability. The aim of this study was to document the characteristics of CMs in the catchment area of our institution.METHODS: We retrospectively analysed newly discovered CMs over a 20-year observation period, as well as the frequency of familial forms in the catchment area.RESULTS: In the period from 1985-2004, a total of 347 patients were investigated. The cohort included about 75% symptomatic CM cases. A total of 1.31 and 0.55 symptomatic and asymptomatic cases, respectively, were newly diagnosed per annum per 100'000 inhabitants. Symptomatic CMs were diagnosed on average at the age of 36 years (range: newborn to 79 years old). There were slightly more patients who presented with evidence of acute bleeding (28%) than those with seizures (26%). Most intracranial lesions were supratentorial in location (54%). Lesion size was predominately below 3 cm (range: 0.2 to 8 cm). Symptomatic CMs (average: 1.75 cm) were significantly larger (p < .0001) than asymptomatic ones (average 0.91 cm). When compared to medical literature, there was a relatively high frequency of multiple CMs (18.9%), which were more common in the familial form (62%).CONCLUSIONS: The observed frequency of CM, including multiple lesions in a single individual and the familial form of this pathological entity appears relatively high compared to medical literature.