Fuse Atsuhito, Fukae Jiro, Nakajima Asuka, Mitsuhashi Takashi, Kurita Ami, Teranishi Kohsuke, Arai Masami, Shimo Yasushi, Hattori Nobutaka
Department of Neurology, Juntendo University Nerima Hospital, Japan.
Department of Neurosurgery, Juntendo University Nerima Hospital, Japan.
Intern Med. 2025 Mar 1;64(5):763-767. doi: 10.2169/internalmedicine.3809-24. Epub 2024 Jul 25.
Cowden syndrome (CS) is an autosomal dominant syndrome characterized by the development of hamartomas and an increased cancer risk. Most CS patients harbor mutations in the phosphatase and tensin homolog (PTEN) gene. We herein report a 70-year-old patient with CS who presented with lower extremity weakness caused by multiple thoracic dural arteriovenous fistulas (AVFs). Genetic testing revealed a truncated PTEN mutation (c.485_487delACAinsCC and p.D162Afs*5). Vascular malformations are common in CS, particularly in the extremities. However, spinal dural AVFs are extremely rare. Furthermore, in our case, the number of AVFs increased, and both lower limbs became flaccid four months after embolization. Therefore, we suggest that physicians carefully observe the changes in symptoms for prolonged periods after embolization.
考登综合征（CS）是一种常染色体显性综合征，其特征为错构瘤的形成以及癌症风险增加。大多数CS患者在磷酸酶和张力蛋白同源物（PTEN）基因中存在突变。我们在此报告一名70岁的CS患者，该患者因多发性胸段硬脊膜动静脉瘘（AVF）出现下肢无力。基因检测发现了一种截短的PTEN突变（c.485_487delACAinsCC和p.D162Afs*5）。血管畸形在CS中很常见，尤其是在四肢。然而，脊髓硬脊膜AVF极为罕见。此外，在我们的病例中，AVF的数量增加，栓塞四个月后双下肢变得松弛。因此，我们建议医生在栓塞后长时间仔细观察症状变化。
