[Hereditary cerebral cavernous malformations: analysis of 12 families]

Zh Vopr Neirokhir Im N N Burdenko. 2011;75(4):34-45; discussion 45-7.
[Article in Russian]

Abstract

Familial (hereditary) cerebral cavernous malformations (CCM) are rare disorders, they have autosomal-dominant type of inheritance. We report 12 families of non-Hispanic descent in which 54 typical CCM were discovered. In 8 families CCM were identified in 2 generations, in 2 - in 3 generations. 46 lesions were supratentorial, 8 - subtentorial. Multiple lesions were present in 67% of cases. Manifestation was observed in 24 persons, including seizures in 17 and hemorrhage in 7. In 9 of 10 families onset of symptoms was earlier with every next generation. In one patient asymptomatic parietal CCM was associated with symptomatic posterior fossa AVM and cutaneous angioma. On the follow-up MRI revealed no new lesions. Surgical treatment was performed in 14 cases: in 13 patients 15 CCM were removed, and 1 patient underwent third ventriculostomy. The paper discusses evaluation and management of families with symptomatic and asymptomatic types of disease, trends and perspectives of further investigations.

Publication types

  • English Abstract

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology*
  • Family
  • Female
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology*
  • Genetic Diseases, Inborn / therapy
  • Hemangioma / genetics
  • Hemangioma / pathology
  • Hemangioma / therapy
  • Humans
  • Intracranial Hemorrhages / genetics
  • Intracranial Hemorrhages / pathology
  • Intracranial Hemorrhages / therapy
  • Magnetic Resonance Imaging
  • Male
  • Pedigree*
  • Retrospective Studies
  • Seizures / genetics
  • Seizures / pathology
  • Seizures / therapy
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Skin Neoplasms / therapy