Journal
PEDIATRIC NEUROLOGY
Volume 92, Issue -, Pages 67-70Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2018.10.022
Keywords
Stroke; Pediatrics; Schimke immuno-osseous dysplasia; Transient ischemic attack; Reversible cerebral vasoconstriction syndrome; Treatment
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Background: 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. Methods: 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. Results: 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. Conclusions: 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. (C) 2018 Elsevier Inc. All rights reserved.
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