Central nervous system involvement in blue-rubber-bleb-nevus syndrome
S. Satya-Murti, S. Navada and F. Eames
The blue-rubber-bleb-nevus syndrome is an uncommon neurocutaneous disorder
where scattered, bluish, rubbery nevi occur on the body surface. These nevi
are frequently noticeable at birth. In addition to the skin lesions,
vascular malformations of internal organs, which tend to bleed, are
frequently present. However, well-documented central nervous system
angiomata are rarely encountered. We present herein the case of a young
adult with central nervous system involvement. Patient presented with a
slowly progressive ataxia and brain stem signs. A large posterior fossa,
and multiple smaller hemispheric angiomata were noted. Only a very few
well-described symptomatic cases have been reported in the literature; we
have reviewed them here. Unlike these cases, our patient with extensive
nervous system involvement had a chronic, slowly progressive and nonfatal
course.
