Clinical Reasoning: A 14-Year-Old Girl With Reversible Peripheral Neuropathy and Encephalopathy

被引：0

作者：

Pi, Shanyu ^{[1
,2
]}

Li, Qiuxiang ^{[1
,2
]}

Li, Jing ^{[1
,2
]}

Long, Hongyu ^{[1
,2
]}

Xiao, Bo ^{[1
,2
]}

机构：

[1] Cent South Univ, Dept Neurol, Changsha, Hunan, Peoples R China

[2] Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China

来源：

NEUROLOGY | 2023年 / 101卷 / 06期

基金：

中国国家自然科学基金;

关键词：

ACAD9; MUTATIONS; BASAL GANGLIA; DIAGNOSIS;

D O I：

10.1212/WNL.0000000000207270

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 14-year-old girl presented with acute ascending, symmetric numbness, and flaccid paralysis 3 weeks after a suspected gastrointestinal infection. She had experienced anorexia since this gastrointestinal episode. EMG showed a sensorimotor axonal polyneuropathy. Routine CSF analysis and serum-specific antibodies (antiganglioside and node of Ranvier-associated antibodies) were all negative. Laboratory investigations for possible etiologies revealed only mild metabolic perturbations. During her hospitalization, she developed mild cognitive deficits. Brain MRI showed bilateral symmetric basal ganglia lesions with hyperintensity on T2 fluid-attenuated inversion recovery, diffusion-weighted imaging hyperintensity, and corresponding apparent diffusion coefficient hypointensity, but without contrast enhancement. A more thorough and detailed history indicated exercise intolerance, and specific examinations subsequently revealed an underlying etiology. This case presentation discusses specific etiology of an acute-onset diffuse and symmetric neuropathy after an acquired injury in a teenager, emphasizing the need of a broad differential diagnosis in this condition.

引用

页码：E665 / E671

页数：7

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