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[Familial multiple cavernomatosis]

F Terriza1, Y Amrani, J J Asencio

  • 1Sección de Neurología, Hospital Torrecárdenas, Almeria, España.

Revista De Neurologia
|April 1, 1997
PubMed
Summary

This family study highlights familial cerebral cavernous malformations, a genetic condition causing neurological issues. Magnetic Resonance Imaging (MRI) is crucial for diagnosing this rare disorder and identifying affected family members.

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Area of Science:

  • Neurology
  • Genetics
  • Medical Imaging

Background:

  • Familial cerebral cavernous malformations (FCCM) are rare, inherited vascular malformations.
  • FCCM can manifest with diverse neurological symptoms including epileptic seizures, headaches, and focal neurological deficits.

Observation:

  • A family of five presented with multiple cerebral cavernous malformations, affecting a child and two siblings.
  • Clinical presentation included epileptic crises, intracranial hypertension, progressive headaches, vomiting, and focal neurological signs like hemiparesia and gaze paralysis.
  • No other angiomas were detected in the affected individuals or their family members.

Findings:

  • Genetic linkage studies have identified a locus for familial cerebral cavernous malformation on chromosome 7.

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  • Magnetic Resonance Imaging (MRI) demonstrates high sensitivity and specificity for diagnosing FCCM and detecting asymptomatic carriers.
  • Angiography is unsuitable for visualizing these lesions due to their 'hidden' nature.

    • Implications:

    • MRI is essential for early diagnosis, monitoring disease progression, and evaluating complications such as hemorrhage or growth.
    • Identifying affected asymptomatic family members through MRI facilitates timely intervention and genetic counseling.
    • Understanding the dynamic nature of cavernous malformations through MRI signal characteristics aids in treatment decisions.