• Atsuhito Fuse, Jiro Fukae, Asuka Nakjima, Takashi Mitsuhashi, Ami Kurita, Kohsuke Teranishi, Masami Arai, Yasushi Shimo, and Nobutaka Hattori.
• Department of Neurology, Juntendo University Nerima Hospital, Japan.
• Intern. Med. 2024 Jul 25.

AbstractCowden 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. 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 arteriovenous fistulas (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.

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