Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia
Schimke immuno-osseous dysplasia (SIOD) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1, a gene encoding a chromatin-remodeling enzyme that stabilizes stalled replication forks and prevents replication-associated DNA damage (OMIM 242900) . The disease is characterized by spondyloepiphyseal dysplasia, nephropathy, immunodeficiency, and growth failure. Several neurologic manifestations have been described, including microcephaly, intellectual disability, seizures, stroke, transient neurological attack, and migraine-like headache .
Cerebrovascular pathology in SIOD may result from several predisposing factors, such as renal disease and immune dysfunction, leading to occlusive disease and early atherosclerosis . Recently, Morimoto et al. demonstrated that vascular complications may also arise from impaired vascular elastogenesis, showing decreased elastin expression in vascular tissues, leading to disorganized internal...
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Conflict of Interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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