Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke...

Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes.

We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia.

Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks.

This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.