Abstract
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.
Original language | English (US) |
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Pages (from-to) | 67-70 |
Number of pages | 4 |
Journal | Pediatric Neurology |
Volume | 92 |
DOIs | |
State | Published - Mar 2019 |
Keywords
- Pediatrics
- Reversible cerebral vasoconstriction syndrome
- Schimke immuno-osseous dysplasia
- Stroke
- Transient ischemic attack
- Treatment
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Developmental Neuroscience
- Clinical Neurology