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Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence,

Steven R Tandberg1, Thèrése Bocklage2, Mary R Bartlett3

  • 1Department of Radiology, University of New Mexico Health Sciences Center, 1 University of New Mexico, MSC 10 5530, Albuquerque, NM 87131.

AJR. American Journal of Roentgenology
|December 12, 2019
PubMed

Insights

MRI-atypical intraosseous vascular malformations are more common in patients with familial cerebral cavernous malformation (FCCM). These atypical malformations, often larger, suggest a potentially more aggressive clinical course in FCCM patients.

Area of Science:

  • Vascular Malformations
  • Neuroscience
  • Radiology

Background:

  • Familial cerebral cavernous malformation (FCCM) is a genetic disorder characterized by abnormal blood vessels in the brain.
  • Intraosseous vascular malformations (IVMs) are abnormal growths of blood vessels within bone tissue.
  • The association between FCCM and IVMs, particularly differentiating between MRI-typical and MRI-atypical presentations, requires further investigation.

Purpose of the Study:

  • To determine if MRI-typical and MRI-atypical intraosseous vascular malformations are associated with familial cerebral cavernous malformation (FCCM).
  • To compare the prevalence and characteristics of IVMs in FCCM patients versus control subjects.
  • To explore potential correlations between IVMs and clinical factors in FCCM patients.

Main Methods:

  • Retrospective matched case-control study analyzing spinal CT and MRI imaging.
  • Two radiologists reviewed imaging from 22 FCCM patients and age/sex-matched controls.
  • Quantitative analysis of lesion number, size, and vertebral level; histologic analysis of two lesions.

Main Results:

  • MRI-atypical IVMs were significantly more common in FCCM patients (p=0.003).
  • No significant difference in MRI-typical IVMs between FCCM patients and controls (p=0.480).
  • MRI-atypical malformations were larger and associated with vertebral capillary-venous malformations.

Conclusions:

  • Vertebral capillary-venous malformations (MRI-atypical IVMs) are prevalent in FCCM patients.
  • These atypical malformations may indicate a more aggressive clinical course.
  • Findings suggest a potential link between FCCM and specific types of intraosseous vascular malformations.
Keywords:
cerebral cavernous malformationintraosseous vascular malformationneurocutaneous disorderspinal cavernous malformationvertebral hemangioma

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