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[Multiple familial cerebral cavernomatosis].

A Sempere-Pérez1, J Campistol, A García-Cazorla

  • 1Servicio de neurología Infantil, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Barcelona, España.

Revista De Neurologia
|June 9, 2007
PubMed
Summary
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Multiple familial cerebral cavernomas, a type of vascular malformation, can cause seizures and bleeding. Magnetic resonance imaging aids diagnosis, and surgical removal may be considered for symptomatic lesions.

Area of Science:

  • Neurology
  • Vascular Malformations
  • Genetics

Background:

  • Cerebral cavernomas are congenital vascular malformations affecting 0.4% of the population.
  • They represent 5-13% of all cerebrovascular malformations and can be sporadic or familial.
  • Familial cases follow an autosomal dominant inheritance pattern with three identified genes.

Observation:

  • A retrospective review of two patients with multiple familial cavernomatosis was conducted.
  • One patient presented with partial seizures, while the other experienced psychomotor delay and behavioral issues.
  • Magnetic resonance imaging revealed multiple cavernomas in both patients, with familial studies confirming affected parents.

Findings:

  • Cavernomas are characterized by specific histological features, often presenting with seizures and parenchymatous bleeding.

Related Experiment Videos

  • Magnetic resonance imaging (MRI) is the gold standard for diagnosing cavernomas, including asymptomatic cases.
  • Familial cases frequently involve multiple lesions (84%) and a history of seizures within the family.

    • Implications:

    • Early diagnosis of cerebral cavernomas is crucial for managing symptoms and preventing complications.
    • Surgical intervention should be considered for symptomatic or progressive, accessible lesions.
    • Regular clinical and MRI follow-up is essential for all patients diagnosed with cavernomas.