From the Department of Neurology (J.R.M., F.M.A.-M., K.J.S.), Massachusetts General Hospital, Harvard Medical School; and Harvard Medical School (M.K.M.), Boston, MA.
Neurology. 2022 Aug 16;99(7):305-310. doi: 10.1212/WNL.0000000000200906. Epub 2022 Jun 3.
Acute ataxia is a common neurologic presentation in the pediatric population that carries a broad differential diagnosis. The tempo of the presentation, distribution of the ataxia (focal or diffuse), examination findings, and paraclinical testing may be helpful in guiding diagnosis and management. Although Guillain-Barré syndrome (GBS) and its variant, Miller Fisher syndrome (MFS), are well defined, frequently encountered acute autoimmune neuropathies, the GBS/MFS spectrum have at least 12 different phenotypes with distinct neurologic features, 4 of which include ataxia. These lesser-known variants can be diagnosed clinically, in the absence of conclusive laboratory or neuroimaging data, and should always be considered in an acute presentation of ataxia. In this article, we present a previously healthy 8-year-old with acute onset ataxia with associated hyporeflexia that occurred after resolution of a presumed viral infection. We discuss our approach to ataxia, the patient's neurodiagnostic odyssey, and highlight the final diagnosis of acute ataxic neuropathy without ophthalmoplegia-a rare incomplete MFS subtype. Owing to timely recognition of the condition, the patient was treated appropriately and recovered fully.
急性共济失调是儿科常见的神经表现,具有广泛的鉴别诊断。发病的速度、共济失调的分布(局灶性或弥漫性)、检查结果和辅助检查可能有助于指导诊断和治疗。尽管吉兰-巴雷综合征(GBS)及其变异型米勒-费舍尔综合征(MFS)是明确的、常见的急性自身免疫性神经病,但 GBS/MFS 谱至少有 12 种不同的表型,具有不同的神经特征,其中 4 种包括共济失调。这些鲜为人知的变异型可以在没有明确的实验室或神经影像学数据的情况下进行临床诊断,并且在急性共济失调发作时应始终考虑这些变异型。在本文中,我们介绍了一位以前健康的 8 岁儿童,他在疑似病毒感染后出现急性共济失调伴反射减退。我们讨论了我们对共济失调的处理方法、患者的神经诊断探索,以及突出了无眼肌麻痹的急性共济失调性神经病的最终诊断,这是一种罕见的不完整的 MFS 亚型。由于及时识别了这种情况,患者得到了适当的治疗并完全康复。