Diffuse carotid arteriosclerosis and stroke in a Patient with Schimke immune- osseous dysplasia

A 4-year-old girl, with history of Schimke immune-osseous dysplasia (SIOD) due to loss of function mutation of SMARCAL1 gene, was presented with acute onset left arm and leg weakness. Her brain magnetic resonance imaging (MRI) showed acute ischemic infarction of right hemisphere and narrowing of bilateral internal carotid arteries (Figure 1 A-C). Her medical history was significant for many features of SIOD: growth retardation, T-cell immunodeficiency, 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