Paula Barreras1, Philippe Gailloud2, Carlos A Pardo3. 1. Department of Neurology & Division of Neuroimmunology and Neuroinfectious Disorders, Johns Hopkins University School of Medicine, 600 North Wolfe St, 627 Pathology Blvd, Baltimore, MD 21287, USA; Johns Hopkins Transverse Myelitis Center, Johns Hopkins University School of Medicine, 600 North Wolfe St, 627 Pathology Blvd, Baltimore, MD 21287, USA. 2. Department of Radiology & Division of Interventional Neuroradiology, Johns Hopkins University School of Medicine, 1800 E Orleans Street, Bloomberg 7218, Baltimore, MD 21287, USA. 3. Department of Neurology & Division of Neuroimmunology and Neuroinfectious Disorders, Johns Hopkins University School of Medicine, 600 North Wolfe St, 627 Pathology Blvd, Baltimore, MD 21287, USA; Johns Hopkins Transverse Myelitis Center, Johns Hopkins University School of Medicine, 600 North Wolfe St, 627 Pathology Blvd, Baltimore, MD 21287, USA. Electronic address: cpardov1@jhmi.edu.
Abstract
BACKGROUND CONTEXT: Cowden 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. PURPOSE: The study aimed to report an unusual case of multiple spinal epidural arteriovenous fistulas in a patient diagnosed with Cowden syndrome. STUDY DESIGN: This is a case report. PATIENT SAMPLE: The patient is a 57-year-old woman. METHODS: We 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. RESULTS: Magnetic 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. CONCLUSIONS: Spinal 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.
BACKGROUND CONTEXT: Cowden 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. PURPOSE: The study aimed to report an unusual case of multiple spinal epidural arteriovenous fistulas in a patient diagnosed with Cowden syndrome. STUDY DESIGN: This is a case report. PATIENT SAMPLE: The patient is a 57-year-old woman. METHODS: We 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. RESULTS: Magnetic 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. CONCLUSIONS:Spinal 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.