[Familial cerebral cavernomatosis associated with cutaneous angiomas]

Rev Neurol. 1998 Sep;27(157):484-90.
[Article in Spanish]


OBJECTIVE, PATIENTS AND METHOD: We present a genealogical study of a person with familial cerebral cavernomatosis (CCF) discovered following study of a man who presented with status epilepticus at the age of 35 years. This had also affected another three members of the family consisting of a total of 43 persons, studied over six generations.

Results: In the family members studied we did not find cavernomas at other sites but there were dermatological lesions whose relation to cerebral cavernomas (CC) is discussed. CCs are the second commonest type of cerebral vascular malformations. Their major clinical features are epilepsy and cerebral haemorrhage. There are two forms of CC: a sporadic form with single lesions and a familial form with multiple lesions. Although the condition has been recognized since 1854, very little is known about it. Recently a gene causing the familial form has been found on chromasome 7.

Conclusions: We discuss the clinical findings in this family with relation to descriptions in the literature. We emphasize the importance of MR in diagnosis of the condition and for detection of asumptomatic carriers. We consider a possible relationship between these findings and genes which have been mapped, and in view of recent genetic data, the hypothesis of a possible Spanish ancestor with the condition.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • Child
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 7 / genetics
  • Female
  • Hemangioma / complications
  • Hemangioma / diagnosis*
  • Hemangioma / genetics
  • Hemangioma, Cavernous / complications
  • Hemangioma, Cavernous / genetics*
  • Hemangioma, Cavernous / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Skin Neoplasms / complications
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Status Epilepticus / etiology