Multiple cavernous malformation syndrome: a casual diagnosis during carotid revascularization procedure

Neurol Sci. 2021 Nov;42(11):4737-4739. doi: 10.1007/s10072-021-05414-9. Epub 2021 Jul 4.

Abstract

Intoduction: Familial cerebral cavernous malformations (FCCM) are a rare condition characterized by the multiple presences of cavernous malformations located in the central nervous system.

Case description: We present a case of FCCM incidental diagnosis in a 71-year-old male patient who underwent carotid artery stenting for high-grade carotid artery disease and subsequent reintervention for severe stent restenosis, determining neurological deficit. FCCM diagnosis was made due to the presence of hundreds of cavernous malformations located both in supra- and sub-tentorial regions highlighted by magnetic resonance and confirmed by genetic test for the mutation of the gene KRIT1, inherited also by his son.

Keywords: Carotid artery disease; Cavernous malformations; Genetic disorders; Neuroimaging.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Carotid Arteries
  • Hemangioma, Cavernous, Central Nervous System* / diagnostic imaging
  • Hemangioma, Cavernous, Central Nervous System* / genetics
  • Hemangioma, Cavernous, Central Nervous System* / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microtubule-Associated Proteins* / genetics
  • Pedigree
  • Proto-Oncogene Proteins / genetics

Substances

  • Microtubule-Associated Proteins
  • Proto-Oncogene Proteins