Martin Sydney, Salman Michael S
Department of Family Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Section of Pediatric Neurology, Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
J Multidiscip Healthc. 2021 Nov 30;14:3331-3341. doi: 10.2147/JMDH.S251860. eCollection 2021.
While ataxia is a relatively common presenting feature in pediatric patients, it represents only one possible cause of uncoordinated movements. Other possible causes of uncoordinated movements include ingestion of toxic substances, musculoskeletal diseases, psychogenic disorders, extrapyramidal movement disorders, peripheral neuropathies, spasticity from any cause, and epilepsy. Therefore, primary health care providers must recognize and exclude other etiologies of uncoordinated movements before attaching the label "ataxia" to any patient presenting with poor coordination. Once the presence of ataxia is confirmed, the cause should be investigated. As ataxia may be vestibular, sensory, or cerebellar in origin, medical practitioners must evaluate the diverse symptoms and signs to effectively differentiate the various types of ataxia. Three case studies are presented to illustrate the complexity associated with the assessment of ataxia. Each case will discuss a pediatric patient who displays cerebellar ataxia as a concurrent feature of a gene-specific developmental and epileptic encephalopathy. These cases will provide an example of how ataxia may be differentiated from other causes of uncoordinated movements related to epilepsy and anti-seizure medications, namely: nonconvulsive seizures, postictal state, and medication side effects or toxicity. The assessment of poor balance can be challenging at times; however, with knowledge of the differential diagnosis of poor balance, medical practitioners will be able to confidently determine the presence of true ataxia from various ataxia mimickers, thereby allowing for timely and accurate diagnosis, and appropriate management.
共济失调是儿科患者相对常见的临床表现，但它只是运动不协调的一种可能原因。运动不协调的其他可能原因包括摄入有毒物质、肌肉骨骼疾病、精神障碍、锥体外系运动障碍、周围神经病变、任何原因引起的痉挛以及癫痫。因此，初级医疗保健提供者在给任何表现为运动不协调的患者贴上“共济失调”标签之前，必须识别并排除运动不协调的其他病因。一旦共济失调被确诊，就应该对病因进行调查。由于共济失调可能源于前庭、感觉或小脑，医生必须评估各种症状和体征，以有效区分不同类型的共济失调。本文介绍三个病例研究，以说明共济失调评估的复杂性。每个病例将讨论一名儿科患者，该患者表现出小脑共济失调，这是一种特定基因发育性和癫痫性脑病的并发特征。这些病例将举例说明如何将共济失调与癫痫和抗癫痫药物相关的其他运动不协调原因区分开来，即：非惊厥性癫痫发作、发作后状态以及药物副作用或毒性。平衡能力差的评估有时可能具有挑战性；然而，通过了解平衡能力差的鉴别诊断，医生将能够自信地从各种类似共济失调的情况中确定真正的共济失调，从而实现及时准确的诊断和适当的治疗。
