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Multiple familial cavernous malformations evaluated over three generations with MR

M Horowitz1, D Kondziolka

  • 1Department of Neurological Surgery, Presbyterian University Hospital, University of Pittsburgh, School of Medicine, PA, USA.

AJNR. American Journal of Neuroradiology
|June 1, 1995
PubMed
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Cavernous malformations, a neurological condition, can affect multiple family members across generations. This study suggests lesions may increase with age due to repeated small hemorrhages.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Cavernous malformations are vascular abnormalities that can cause neurological symptoms.
  • Genetic predisposition is suspected in some cases of cavernous malformations.

Observation:

  • Magnetic resonance (MR) imaging was employed to screen three generations of a family for cavernous malformations.
  • The proband presented with a symptomatic hemorrhage, prompting the investigation.
  • Multiple cavernous malformations were detected in affected relatives, including an asymptomatic grandfather.

Findings:

  • A familial pattern of cavernous malformations was observed, with affected individuals across generations.
  • The number of MR-apparent lesions appeared to correlate with patient age.

Related Experiment Videos

  • Repetitive microhemorrhages may contribute to the increase in lesion number over time.

    • Implications:

    • Early detection and monitoring of cavernous malformations in at-risk families are crucial.
    • Understanding the progression of cavernous malformations can inform clinical management strategies.
    • Further research into the genetic and molecular mechanisms underlying cavernous malformation development is warranted.