"Radiologically Isolated" Spinal Cavernoma Associated with Familial Cerebral Cavernomatosis

Christos Bakirtzis; Ioanna Koutroulou; Ioannis Nikolaidis; Theodoros Karapanayiotides; Nikolaos Grigoriadis

doi:10.1159/000502737

"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.

Authors

Christos Bakirtzis¹, Ioanna Koutroulou¹, Ioannis Nikolaidis¹, Theodoros Karapanayiotides², Nikolaos Grigoriadis¹

Affiliations

¹ B' Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
² B' Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece, [email protected].

PMID: 31466067
DOI: 10.1159/000502737

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