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Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report
BMC Neurology ( IF 2.2 ) Pub Date : 2020-04-06 , DOI: 10.1186/s12883-020-01698-0
Huijia Yang , Hongwei Zhou , Jing Miao

Anomalies of pyramidal tract decussation are rare phenomena that can be caused by ectodermal dysplasia. Herein, we describe a patient with ichthyosis who exhibited ipsilateral hemiparesis after stroke and whose neuroimaging results showed evidence of motor control being provided by the ipsilateral motor cortex. A 24-year-old right-handed man presented with skin abnormalities, sudden-onset left hemiparesis, and dysarthria. He exhibited a mild-to-moderate left-sided weakness (grade 4 on the Medical Research Council scale). Magnetic resonance imaging revealed an acute infarct in the left corona radiata. Diffusion tensor imaging revealed uncrossed corticospinal tracts. Next-generation sequencing identified heterozygous FLG mutations. The patient was diagnosed with cerebral infarction and ichthyosis vulgaris and was treated with aspirin (100 mg/d). His symptoms gradually dissipated. This case suggests that pyramidal decussation anomalies can be associated with ichthyosis. Patients with ichthyosis should therefore be evaluated for nerve involvement.

中文翻译:

鱼鳞病和偏瘫患者的皮质脊髓横道未交叉:病例报告

锥体束脱位异常是罕见的现象,可能是由外胚层发育不良引起的。本文中,我们描述了一名鱼鳞病患者,卒中后表现出同侧偏瘫,并且其神经影像学结果显示了由同侧运动皮层提供运动控制的证据。一名24岁的右撇子男子出现皮肤异常,突然发作的左半身轻瘫和构音障碍。他表现出轻度至中度的左侧无力(医学研究理事会评分为4级)。磁共振成像显示左电晕辐射急性梗塞。扩散张量成像显示皮质脊髓束未交叉。下一代测序鉴定出杂合的FLG突变。该患者被诊断出患有脑梗塞和寻常型鱼鳞病,并接受阿司匹林(100 mg / d)治疗。他的症状逐渐消失。这种情况表明,锥体叠叠异常可能与鱼鳞病有关。鱼鳞病患者应因此评估神经受累情况。
更新日期:2020-04-22
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