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在以前健康的儿童中,渐进性运动衰退的可逆病因

Tal Eliav¹, Deandra Kuruppu¹, Pedro A Sanchez-Lara¹

¹Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, California.

|August 2, 2024

概括

该案例研究显示,一个患有逐渐肌肉衰弱和学习困难的儿童被诊断为甲状腺功能障碍症. 这种有毒代谢状况的早期诊断和治疗导致症状改善.

科学领域:

儿科神经学儿科神经学
内分泌学在内分泌学.
临床案例研究临床案例研究

背景情况:

在儿童中,渐进的近端肌肉衰弱,缩和体重减轻可能表明潜在的有毒代谢障碍.
相关的症状,如心动减速,震和学习困难可能表明更广泛的系统性影响.

研究的目的:

介绍一个10岁男孩患有肌病性表型和神经症状的病例.
强调在儿科神经病例中考虑和评估可逆性有毒代谢原因的重要性.

主要方法:

临床评估包括神经学检查,肌电图和甲状腺功能实验室查.
进行了甲状腺抗体和甲状腺超声波的免疫检测.
开始使用阿提诺洛尔和甲基马治疗.

主要成果:

电肌图显示慢性肌病变化.
实验室检测显示甲状腺刺激激素无法检测,甲状腺过氧化酶抗体升高,甲状腺刺激免疫球蛋白.
甲状腺超声波显示甲状腺扩大,异质.
在治疗后四周,患者表现出强度和认知能力的改善.

结论:

甲状腺功能障碍症在儿童中可以表现为肌病性表型和神经症状.
快速识别和管理高甲状腺症等有毒代谢条件对于改善儿科患者的神经结果至关重要.
这一案例强调了对患有不明原因的渐进性神经缺陷的儿童进行综合诊断方法的必要性.

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