Division of Pediatric Neurology, Department of Pediatrics and Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center Dallas, Dallas, Texas; Children's Health System of Texas, Dallas, Texas.
Children's Health System of Texas, Dallas, Texas; Department of Radiology, University of Texas Southwestern Medical Center Dallas, Dallas, Texas.
Pediatr Neurol. 2019 Mar;92:67-70. doi: 10.1016/j.pediatrneurol.2018.10.022. Epub 2018 Nov 22.
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.
Schimke 免疫骨发育不良是一种罕见的常染色体隐性遗传病，由双等位基因 SMARCAL1 突变引起。它在儿童早期发病，其特征是身材矮小、肾病和免疫缺陷。约 50%的受影响者有神经并发症，包括偏头痛、短暂性脑缺血发作和中风。
我们介绍了一名 6 岁男孩患有 Schimke 免疫骨发育不良，但无动脉粥样硬化证据，反复出现严重头痛、波动性偏瘫和失语。
初次发作时磁共振成像和血管造影正常；随后的发作中可见多个区域的可逆性弥散受限，伴有灌注减少和动脉狭窄。
这种症状和影像学表现提示可逆性脑血管收缩综合征，我们认为这是 Schimke 免疫骨发育不良患者中一些短暂性脑缺血发作和梗死的机制，而不仅仅是动脉粥样硬化加速。这一新的认识可能为这种罕见疾病提供新的预防治疗基础。
