Department of Pediatrics, Pediatric Neurology Unit, University Clinic of Navarra, Pamplona, Spain.
Genet Med. 2010 Aug;12(8):532-5. doi: 10.1097/GIM.0b013e3181e5c7ea.
Lymphedema-distichiasis syndrome is characterized by the presence of lower limb lymphedema and supernumerary eyelashes arising from the Meibomian glands. Spinal extradural arachnoid cysts have been observed in some families but their true frequency is unknown. The aim of this study is to determine the frequency of spinal extradural arachnoid cysts in lymphedema distichiasis syndrome.
We collected clinical information from all 45 living members of a complete family of 48 members and performed molecular analysis of the FOXC2 gene in 30 individuals. We obtained spinal magnetic resonance imaging from all family members with a FOXC2 gene mutation.
Twelve family members carried a mutation in the FOXC2 gene and had clinical features of lymphedema-distichiasis syndrome. Of these, 58% (seven individuals) had extradural arachnoid cysts.
We suggest that a follow-up protocol for lymphedema-distichiasis syndrome families should include spinal magnetic resonance imaging for all affected members so that the timing of surgery for removal of these cysts can be optimized.
淋巴水肿-多睫毛综合征的特征是下肢淋巴水肿和来自睑板腺的多余睫毛。一些家族中观察到脊髓硬膜外蛛网膜囊肿，但它们的真实频率尚不清楚。本研究旨在确定淋巴水肿-多睫毛综合征中脊髓硬膜外蛛网膜囊肿的频率。
我们收集了一个完整的 48 名成员的家族中所有 45 名在世成员的临床信息，并对 30 名个体进行了 FOXC2 基因的分子分析。我们对所有携带 FOXC2 基因突变的家族成员进行了脊髓磁共振成像检查。
12 名家族成员携带 FOXC2 基因突变，具有淋巴水肿-多睫毛综合征的临床特征。其中，58%（7 人）有硬膜外蛛网膜囊肿。
我们建议淋巴水肿-多睫毛综合征家族的随访方案应包括所有受影响成员的脊髓磁共振成像，以便优化这些囊肿的手术时机。
