"Radiologically Isolated" Spinal Cavernoma Associated with Familial Cerebral Cavernomatosis

Eur Neurol. 2019;81(5-6):327-330. doi: 10.1159/000502737. Epub 2019 Aug 29.

Abstract

We describe a 45 year-old woman with a randomly discovered cavernous malformation of the cervical cord following investigation for neck injury. She had multiple brain cavernomas increasing in number over the following two years. She was finally diagnosed with familial cavernomatosis due to a PDCD10 mutation (CCM3).

Keywords: Cavernoma; Familial cerebral cavernomatosis; Microbleeds.

Publication types

  • Case Reports

MeSH terms

  • Apoptosis Regulatory Proteins / genetics
  • Cervical Cord / pathology*
  • Female
  • Hemangioma, Cavernous, Central Nervous System / diagnosis*
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Humans
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Proto-Oncogene Proteins / genetics

Substances

  • Apoptosis Regulatory Proteins
  • Membrane Proteins
  • PDCD10 protein, human
  • Proto-Oncogene Proteins

Supplementary concepts

  • Familial cerebral cavernous malformation