A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report

Abstract

Background ContextCowden syndrome is an autosomal dominant syndrome characterized by multiple hamartomas and an increased cancer risk. It is associated with mutations in the phosphatase and tensin homologue (PTEN) gene that encodes a tumor suppressant phosphatase. PurposeThe study aimed to report an unusual case of multiple spinal epidural arteriovenous fistulas in a patient diagnosed with Cowden syndrome. Study DesignThis is a case report. Patient SampleThe patient is a 57-year-old woman. MethodsWe report the case of a 57-year-old woman with a history of multiple cancers, with acute exacerbation of lower extremity weakness and numbness that had progressed over a month. ResultsMagnetic resonance imaging showed abnormal signal in the thoracolumbar spinal cord, with enhancement after contrast administration. A spinal angiogram confirmed the presence of multiple spinal epidural arteriovenous fistulas. Genetic testing confirmed the diagnosis of Cowden syndrome with a mutation in intron 3 of the PTEN gene. ConclusionsSpinal vascular malformations occur in patients with Cowden syndrome, and they can be multifocal and locally aggressive. It is important to raise the suspicion of Cowden syndrome in patients with spinal cord vascular anomalies and a history of multiple cancers, as the correct genetic diagnosis may have implications for management and cancer screening.