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小孩患有限制扩散的急性白细胞大脑病变 (ALERD):一个诊断挑战,揭露遗传性感官自主神经病变4型

Vykuntaraju K Gowda¹, Archana Varghese², Uddhava V Kinhal²

¹Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India drknvraju08@gmail.com.

BMJ case reports

|December 12, 2025

概括

遗传性感官自主神经病变 (HSAN) 类型4可以表现为限制扩散的急性白血脑病变 (ALERD),从而带来诊断挑战. 在一个患有这些疾病的幼儿身上,发现了NTRK1基因的遗传变异.

科学领域:

儿科神经学儿科神经学
神经遗传学神经遗传学
罕见疾病罕见疾病

背景情况:

遗传性感官自主神经病变 (HSAN) 包含一组影响神经功能的罕见遗传疾病.
4型HSAN的特点是先天性疼痛不敏感,无水和智力障碍.
限制扩散的急性白细胞大脑病变 (ALERD) 是一种严重的神经疾病,通常与感染或代谢障碍有关.

研究的目的:

描述一个幼儿出现了暗示ALERD和HSAN的症状的病例.
为了调查观察到的神经表现的遗传基础.
要突出诊断在区分或共同诊断这些条件的挑战.

主要方法:

临床病例介绍,详细说明症状,检查结果和疾病进展.
大脑的磁共振成像 (MRI) 来识别特征性的白质异常.
外体序列测序用于识别与患者病情相关的遗传变异.

主要成果:

该患者表现出严重的神经症状,包括发作和状态,以及先天性感官自主神经病变的特征.
大脑MRI显示皮下白质中双边对称的扩散限制,与ALERD一致.
外基因测序确定了NTRK1基因中化合物异构合的可能致病变体,证实了呈现为ALERD.的HSAN类型4的诊断.

结论:

类型4的HSAN可以呈现出模仿ALERD的临床和放射性特征,从而带来重大诊断挑战.
基因分析,特别是外基因组测序,对于复杂的神经病例的准确诊断至关重要.
这一案例强调了在对儿科白细胞脑病的差异诊断中考虑遗传神经病变的重要性.

关键词:

紧急医疗紧急医疗发烧来源不明的发烧.遗传学是一个遗传学.免疫功能受损的宿主免疫学免疫学免疫学

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