Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia

This four-year-old girl with Schimke immuno-osseous dysplasia (SIOD), caused by a loss of function mutation of the SMARCAL1 gene, presented with acute left hemiparesis. Her brain magnetic resonance imaging (MRI) revealed an acute ischemic infarction in the right hemisphere and narrowing of both internal carotid arteries (Fig 1A-C). She exhibited many features of SIOD: growth retardation, spondyloepiphyseal dysplasia (Fig 2), T-cell deficiency, progressive renal dysfunction, and recurrent nephrotic syndrome in association with hypertension and hyperlipidemia.

Source: Pediatric Neurology - March 22, 2017 Category: Neurology Authors: Debopam Samanta, Raghu Ramakrishnaiah Tags: Visual Diagnosis Source Type: research