Prevalence of temporal bone tegmen defects among patients with Marfan syndrome

Abstract

Background: Marfan syndrome (MFS) is a genetic disorder affecting connective tissue. The composition of the dura can change. Consequently, lumbo-sacral dural herniations and cerebrospinal fluid (CSF) leaks are encountered, however, they have yet to been described in the temporal bone.

Aims/Objectives: To define the prevalence of temporal bone meningocele or encephalocele among patients with MFS.

Materials and methods: Reviewed medical records of all adult patients, diagnosed with MFS, who were treated between 1993 and 2018 at a single academic referral institute. Head targeted CT scans were analyzed. The presence of an anterior or lateral skull base defect was recorded.

Results: One-hundred and one patients diagnosed with MFS were identified. Twelve of which had suitable CT scans and were enrolled in the study. The median age of patients with defects was 65 years (range 41–71). Five of the twelve patients (41.6%) had tegmen defect. Of the seven defects found, the median size of the defects was 3 mm (range 2–5 mm). All defects were in the temporal bone, none in the anterior skull base.

Conclusions and significance: The prevalence of radiological evidence of a temporal bone defect among patients with MFS is high. This is a new, important, and potentially life-threatening association with the syndrome.

Chinese abstract

背景：多发性硬化症（MFS）是一种影响结缔组织的遗传性疾病。硬脑膜的成分可以改变。因此, 发生过腰骶部硬脑膜疝和脑脊液（CSF）漏, 然而, 还没有在颞骨中有这样的描述。

目的：确定多发性硬化症患者颞骨脑膜膨出或脑膨出的患病率。

材料和方法：回顾1993年至2018年在单一学术转诊医院接受治疗的所有确诊为多发性硬化症的成人患者的病历。分析头部靶向CT扫描。记录前颅底或侧颅底病变的存在。

结果：确诊为多发性硬化症的患者110例。其中12名患者进行了适当的CT扫描, 并将其纳入研究。病变患者的平均年龄为65岁（41-71岁）。12名患者中有5名（41.6%）有替格曼病变。在所发现的七个病变中, 中间尺寸为3 mm（范围为2-5 mm）。所有病变均位于颞骨, 前颅底无病变。

结论和意义：MFS患者颞骨病变的放射学证据患病率较高。这是一种新的、重要的、可能危及生命的综合征。

Keywords:

• Marfan syndrome
• temporal bone
• tegmen defect
• CSF leak
• otorrhea
• meningocele

Disclosure statement

No potential conflict of interest was reported by the authors.