Winchester Sara, Singh Piyush K, Mikati Mohamad A
Division of Pediatric Neurology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X.
The approach to the child with ataxia requires a detailed history and careful general and neurological examination as well as selected blood work and brain imaging and increasingly available genetic testing for inherited ataxias that usually have an episodic or progressive presentation. The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e.g., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (benign paroxysmal positional vertigo), autosomal dominant episodic ataxias (with seven types currently identified), and hypothyroidism. Cooperation with therapists and providers from other specialties including ophthalmology and genetics and metabolism is essential to caring for these children and their families.
对于患有共济失调的儿童,诊断方法需要详细的病史、仔细的全身和神经系统检查,以及针对性的血液检查、脑部成像,还有针对遗传性共济失调越来越普及的基因检测,遗传性共济失调通常呈发作性或进行性表现。本章涵盖的急性和复发性共济失调的鉴别诊断包括中毒(如抗癫痫药、铅、酒精)、感染后小脑炎、出血、缺血性中风、肿瘤(后颅窝或小脑)、脑干脑炎、隐匿性神经母细胞瘤、米勒·费希尔综合征、转换反应、多发性硬化症、癫痫性假性共济失调、血管炎(如川崎病)、代谢病因(如枫糖尿症、丙酮酸脱氢酶缺乏症、鸟氨酸转氨甲酰酶缺乏症、生物素酶缺乏症、哈特纳普病和精氨琥珀酸尿症)、偏头痛、偏头痛等效症(良性阵发性位置性眩晕)、常染色体显性遗传性发作性共济失调(目前已确定七种类型)以及甲状腺功能减退。与治疗师以及包括眼科、遗传学和代谢学在内的其他专科医生合作对于照顾这些儿童及其家庭至关重要。