Familial cavernous angioma without clinical haemorrhage

M. J. Day, M. K. Morgan*, S. C. Wang, M. Roman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The incidence and natural history of cerebral cavernous malformations remain poorly defined. MRI now provides anaccurate means of diagnosis and follow-up of these lesions. Hereditary cavernous angiomata have been reported in several racial groups, revealing asymptomatic family members with significant numbers of lesions. We report a family of Anglo-Saxon origin with nine members among three generations affected via an autosomal dominant mode of inheritance. MRI of seven affected family members revealed 74 lesions. Autopsy of two further family' members who died of unrelated causes also demonstrated the presence of cavernous angiomata. No lesion was associated with anomalous venous drainage. Two affected family members had seizures. Although six lesions exhibited the characteristic mixed intensity T2 spin echo signal suggesting haemorrhage, no lesion has caused a clinically apparent haemorrhage. This family offers a unique perspective of the natural history of this disease. No clinically apparent haemorrhage has occurred in 2418 lesion years. The benign nature of these lesions suggests that, in clinically unruptured familial cavernous angiomas, without accompanying anomalous venous drainage, a conservative approach may be warranted irrespective of their location.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalJournal of Clinical Neuroscience
Volume2
Issue number3
DOIs
Publication statusPublished - 1995
Externally publishedYes

Keywords

  • Cavernous angioma
  • Familial
  • Haemosiderin
  • Natural history
  • Venous angioma vascular malformation

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