Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Krieger School of Arts and Sciences, Johns Hopkins University, Baltimore, Maryland, USA.
World Neurosurg. 2020 Oct;142:e350-e356. doi: 10.1016/j.wneu.2020.06.238. Epub 2020 Jul 9.
Some patients with Chiari malformation type I (CM-1) present with a positive family history of CM-1, the significance of which remains unknown. We aimed to study whether family history affects the clinical presentation characteristics and surgical outcome of adult patients with CM-1.
A database of adult patients with CM-1 presenting between January 1, 2006 and December 31, 2018 was used. Presenting characteristics were compared between patients with and without a family history (first, second, or third degree) of CM-1. Among surgically treated patients, perioperative and long-term outcomes, with favorable outcome defined as a Chiari Outcome Scale score ≥14, were compared between patients with and without CM-1 family history. All patients completed at least 6 months of postoperative follow-up.
The database consisted of 233 adult patients with CM-1, 14 of whom (6%) had a positive family history. Presenting characteristics were comparable between patients with and without a positive family history. A total of 150 patients underwent suboccipital decompression, 12 of whom (8%) had a positive family history. After a mean follow-up of 1.9 years, patients with a family history of CM-1 were significantly less likely to achieve a favorable outcome (odds ratio, 0.22; 95% confidence interval, 0.06-0.78; P = 0.019) while controlling for several covariates. Post hoc analysis showed that the difference was most significant when looking at pain symptoms.
Presentation characteristics are comparable between patients with and without a family history of CM-1. Patients with a positive family history may be less likely to respond favorably to suboccipital decompression.
一些 Chiari 畸形 I 型（CM-1）患者存在 CM-1 的阳性家族史，其意义尚不清楚。我们旨在研究家族史是否影响成人 CM-1 患者的临床表现特征和手术结果。
使用 2006 年 1 月 1 日至 2018 年 12 月 31 日期间就诊的成人 CM-1 患者数据库。比较有和无 CM-1 家族史（一级、二级或三级）的患者的表现特征。在接受手术治疗的患者中，比较有和无 CM-1 家族史的患者的围手术期和长期结局，以 Chiari 结局量表评分≥14 为预后良好。所有患者均完成至少 6 个月的术后随访。
该数据库包含 233 例成人 CM-1 患者，其中 14 例（6%）有阳性家族史。有和无阳性家族史的患者表现特征相似。共有 150 例患者接受了枕下减压术，其中 12 例（8%）有阳性家族史。平均随访 1.9 年后，有 CM-1 家族史的患者获得良好结局的可能性显著降低（优势比，0.22；95%置信区间，0.06-0.78；P=0.019），同时控制了多个协变量。事后分析表明，当关注疼痛症状时，差异最为显著。
有和无 CM-1 家族史的患者表现特征相似。有阳性家族史的患者对枕下减压术的反应可能较差。
