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Stroke and mixed connective tissue disease
W D Graf1, J M Milstein, D D Sherry
1Department of Pediatrics, Children's Hospital and Medical Center, University of Washington, Seattle 98105.
Insights
Cerebrovascular disease can be a primary sign in children with mixed connective tissue disease, presenting with varied neurological outcomes. Prompt treatment may lead to recovery, but severe cases can be fatal.
Area of Science:
- Neurology
- Rheumatology
- Pediatrics
Background:
- Mixed connective tissue disease (MCTD) is an autoimmune disorder with overlapping features of other connective tissue diseases.
- Cerebrovascular disease, encompassing conditions affecting brain blood vessels, is a known complication in some autoimmune disorders.
Observation:
- Two pediatric cases of MCTD with cerebrovascular events are presented.
- Case 1: A girl with rapid onset hemiparesis and aphasia due to internal carotid artery occlusion, who recovered with immunosuppressive therapy.
- Case 2: A girl with MCTD who experienced fatal neurologic deterioration from intracerebral hemorrhage, confirmed as small-vessel fibrinoid necrosis on autopsy.
Findings:
- This study highlights cerebrovascular disease as a primary manifestation in MCTD, distinct from its association with systemic lupus erythematosus.
- The cases illustrate a spectrum of cerebrovascular complications in pediatric MCTD, ranging from arterial occlusion to hemorrhage.
- Histopathological findings in one fatal case indicated small-vessel vasculitis.
Implications:
- Recognizing cerebrovascular disease as a potential primary sign in pediatric MCTD is crucial for timely diagnosis and intervention.
- These findings may prompt further research into the pathogenesis and management of cerebrovascular complications in MCTD.
- Early detection and aggressive treatment strategies are essential to improve outcomes for children with MCTD and neurological involvement.
Abstract:
We describe the clinical presentation and course of two girls with cerebrovascular disease and mixed connective tissue disease. One developed rapid onset hemiparesis and aphasia secondary to left internal carotid artery occlusion. She experienced a complete recovery after treatment with prednisone and cyclophosphamide. The other patient was diagnosed as having mixed connective tissue disease but had acute neurologic deterioration. She died due to an intracerebral hemorrhage. Autopsy demonstrated small-vessel fibrinoid necrosis. Although cerebrovascular disease secondary to central nervous system vasculitis is a manifestation of systemic lupus erythematosus, this is the first description of cerebrovascular disease as a primary sign in mixed connective tissue disease. These cases demonstrate the range of cerebrovascular disease observed in children with mixed connective tissue disease.