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

A case report

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalSpine Journal
DOIs
StateAccepted/In press - Oct 13 2015

Fingerprint

Multiple Hamartoma Syndrome
Spinal Cord Diseases
Arteriovenous Fistula
Phosphoric Monoester Hydrolases
Neoplasms
Spinal Cord
Mutation
Vascular Malformations
Hypesthesia
Genetic Testing
Early Detection of Cancer
Introns
Genes
Blood Vessels
Lower Extremity
Angiography
Magnetic Resonance Imaging

Keywords

  • Arteriovenous fistula
  • Cancer
  • Cowden syndrome
  • Myelopathy
  • Paraparesis
  • PTEN
  • Spinal cord

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery

Cite this

@article{14af506ef3ba4375959cac79764530cc,
title = "A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: A case report",
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.",
keywords = "Arteriovenous fistula, Cancer, Cowden syndrome, Myelopathy, Paraparesis, PTEN, Spinal cord",
author = "Paula Barreras and Philippe Gailloud and Pardo-Villamizar, {Carlos A}",
year = "2015",
month = "10",
day = "13",
doi = "10.1016/j.spinee.2016.01.005",
language = "English (US)",
journal = "Spine Journal",
issn = "1529-9430",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome

T2 - A case report

AU - Barreras, Paula

AU - Gailloud, Philippe

AU - Pardo-Villamizar, Carlos A

PY - 2015/10/13

Y1 - 2015/10/13

N2 - 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.

AB - 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.

KW - Arteriovenous fistula

KW - Cancer

KW - Cowden syndrome

KW - Myelopathy

KW - Paraparesis

KW - PTEN

KW - Spinal cord

UR - http://www.scopus.com/inward/record.url?scp=84975709021&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84975709021&partnerID=8YFLogxK

U2 - 10.1016/j.spinee.2016.01.005

DO - 10.1016/j.spinee.2016.01.005

M3 - Article

JO - Spine Journal

JF - Spine Journal

SN - 1529-9430

ER -