Purpose

Lipoma of the filum terminale (FL) is an abnormality in which fat is deposited in the filum terminale. This lipoma is often detected by skin abnormalities in the lumbosacral area such as a sacrococcygeal dimple. Some cases may develop tethered cord and become symptomatic. However, the genetic basis of FL is still unclear.

Methods

This study aimed to determine whether there was a family history of FL or other forms of spina bifida among 54 families of 56 patients with FL and to examine whether there is a familial predisposition in FL. In addition, sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, and the level of conus medullaris between familial and spontaneous cases were evaluated.

Results

Of the 54 families of FL patients, there were 48 siblings. Among the 48 siblings, 2 had “occult” FL. The frequency of FL among siblings was estimated to be 4.2% (2/48), which was significantly higher than the sum of previously reported cases of spontaneous FL (0.91%; p = 0.017). However, there was no significant difference in sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, diameter of filum terminale, or level of conus medullaris between familial and spontaneous cases.

Conclusion

To our knowledge, this is the first report on familial FL and examination of the frequency of FL among siblings. The high probability of FL among siblings of FL patients suggests that genetic factors may play a role in FL development.

中文翻译：

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终丝脂肪瘤患者的家族倾向

目的

终丝脂肪瘤 (FL) 是脂肪沉积在终丝中的异常。这种脂肪瘤通常通过腰骶区域的皮肤异常检测到，例如骶尾部酒窝。一些病例可能会出现绳索束缚并出现症状。然而，FL的遗传基础仍不清楚。

方法

本研究旨在确定 56 名 FL 患者的 54 个家庭中是否存在 FL 家族史或其他形式的脊柱裂，并检查 FL 是否存在家族倾向。此外，还评估了性别、诊断时的年龄、症状的存在、骶尾部凹陷的存在以及家族性和自发性病例之间的脊髓圆锥水平。

结果

在 FL 患者的 54 个家庭中，有 48 个兄弟姐妹。在这 48 个兄弟姐妹中，有 2 个患有“神秘”的 FL。兄弟姐妹中 FL 的频率估计为 4.2% (2/48)，显着高于先前报告的自发性 FL 病例的总和 (0.91%；p = 0.017)。然而，家族性和自发性病例在性别、诊断时的年龄、症状的存在、骶尾部凹陷的存在、终丝直径或脊髓圆锥水平方面没有显着差异。

结论

据我们所知，这是关于家族性 FL 和兄弟姐妹中 FL 频率检查的第一份报告。FL 患者兄弟姐妹中 FL 的高概率表明遗传因素可能在 FL 发展中起作用。