临床推理：一名13岁男孩表现为急性起病的全身性肌张力障碍、头尾梯度及严重延髓功能障碍。

文献信息

中文摘要

一名13岁青春期男孩在1个月内出现进行性全身性动作迟缓，随后10天内迅速出现言语丧失、吞咽困难、强直和肌张力障碍姿势。获得性病因评估，包括脑脊液、感染相关检查、自身免疫性脑炎抗体组合及脑MRI，均无阳性发现，经验性皮质类固醇/抗病毒治疗未产生有意义的改善。查体显示严重全身性肌张力障碍，呈头尾方向严重程度分布，突出的延髓和上肢受累，反射亢进，踝阵挛及双侧Babinski征。对症药物仅部分减少疼痛性阵发性发作，未带来有意义的功能恢复。患者后来接受了双侧中央中-束旁复合体（CM-Pf）脑深部电刺激，功能反应有限。本病例说明头尾方向严重程度分布和延髓功能障碍如何将诊断思路从获得性脑炎样疾病转向早期基因检测。

英文摘要

A 13-year-old adolescent boy developed progressive generalized slowness over 1 month, followed by 10 days of rapidly worsening speech loss, dysphagia, rigidity, and dystonic posturing. Acquired evaluations, including CSF, infectious studies, autoimmune encephalitis panels, and brain MRI, were unrevealing, and empirical corticosteroid/antiviral therapy produced no meaningful improvement. Examination showed severe generalized dystonia with a rostrocaudal severity distribution, prominent bulbar and upper limb involvement, hyperreflexia, ankle clonus, and bilateral Babinski signs. Symptomatic medication produced only a partial reduction of painful paroxysmal episodes without meaningful functional recovery. The patient later underwent bilateral centromedian-parafascicular complex (CM-Pf) deep brain stimulation with limited functional response. This case illustrates how rostrocaudal severity distribution and bulbar dysfunction can redirect the diagnostic approach from acquired encephalitis-like disorders toward early genetic testing.