Abstract
We studied a family in which 4 persons from three generations had multiple cavernous malformations (“angiomas”) of the central nervous system (CNS) and/or retina and found accounts in the literature of sixteen other families with this condition. In these families with familial cavernous malformation of the CNS and retina, 92% of pathologically documented vascular malformations were cavernous; 50% of those subjects affected had multiple CNS and/or retinal vascular malformations and 68% (excluding probands) were symptomatic. Cutaneous vascular lesions were an inconsistant manifestation. Autosomal dominant inheritance with high penetrance was confirmed.
Original language | English (US) |
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Pages (from-to) | 578-583 |
Number of pages | 6 |
Journal | Annals of Neurology |
Volume | 21 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1987 |
Externally published | Yes |