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Central nervous system involvement in blue-rubber-bleb-nevus syndrome
Archives of Neurology
|November 1, 1986
Summary
Blue-rubber-bleb-nevus syndrome, a rare neurocutaneous disorder, typically involves skin and internal vascular malformations. This case highlights rare central nervous system angiomata with a slowly progressive, nonfatal course.
Area of Science:
- Neurocutaneous disorders
- Vascular malformations
- Neurology
Background:
- Blue-rubber-bleb-nevus syndrome (BRBNs) is a rare neurocutaneous disorder characterized by superficial vascular malformations.
- Internal organ involvement is common, often leading to bleeding complications.
- Central nervous system (CNS) angiomata are exceptionally rare in BRBNs.
Observation:
- A young adult presented with progressive ataxia and brain stem signs.
- Neuroimaging revealed a large posterior fossa angioma and multiple smaller hemispheric angiomata.
- The patient's CNS involvement was extensive.
Findings:
- Despite extensive CNS angiomata, the patient exhibited a chronic, slowly progressive, and nonfatal clinical course.
- This contrasts with the typically severe or fatal outcomes reported in the few documented symptomatic CNS cases.
- The findings suggest a potentially variable clinical trajectory for CNS involvement in BRBNs.
Implications:
- This case expands the understanding of the clinical spectrum of blue-rubber-bleb-nevus syndrome.
- It suggests that extensive central nervous system involvement may not always result in a rapidly progressive or fatal outcome.
- Further research into the factors influencing the clinical course of CNS angiomata in BRBNs is warranted.