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Familial cavernous malformations of the central nervous system and retina |
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| Authors: | W B Dobyns V V Michels R V Groover B Mokri J C Trautmann G S Forbes E R Laws |
| Affiliation: | 1. Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, MN Department of Department of Neurology, Medical College of Wisconsin, of Wisconsin, Milwaukee, WI;2. Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN Department of Section of Pediatric Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN;3. Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN;4. Department of Ophthalmology, Mayo Clinic and Mayo Foundation, Rochester, MN;5. Department of Diagnostic Radiology, Mayo Clinic and Mayo Foundation, Rochester, MN;6. Department of Neurologic Surgery, Mayo Clinic and Mayo Foundation, Rochester, MN |
| 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. |
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