Subacute sensory ataxia and optic neuropathy with thiamine deficiency
Subacute sensory ataxia and optic neuropathy with thiamine deficiency
复制标题
DOI：
10.1038/nrneurol.2010.16
复制
发表时间：
2010-05-01
影响因子：
38.1
通讯作者：
Patrini, Cesare
中科院分区：
文献类型：
--
作者：
Spinazzi, Marco;Angelini, Corrado;Patrini, Cesare
背景一位71岁的男性，有胃部分切除术史，因亚急性步态不稳伴疼痛性感觉迟钝和双手笨拙到急诊室就诊。在就诊前10年，他被诊断为巨幼细胞性贫血，由于维生素B-12和叶酸缺乏，没有神经系统受累，他正在接受定期治疗。神经系统检查;常规实验室检测;脊柱和脑的MRI;腰椎穿刺;肌电图;感觉、运动和视觉诱发电位，视神经光学相干断层扫描;免疫电泳; cryocyanulins;免疫和感染试验;肿瘤神经抗体筛查;血清代谢值测量，包括维生素B-12和E、叶酸、同型半胱氨酸、铜、锌和维生素E;转酮酶活性;胃肠内窥镜检查;还有葡萄糖呼气测试诊断亚急性感觉性共济失调伴双侧视神经病变与远处部分胃切除术后引起的硫胺素缺乏有关。胃肠外补充硫胺素，然后长期口服硫胺素和短期低剂量多种维生素。
Background. A 71 year-old man with a history of partial gastrectomy presented to the emergency department with subacute gait instability associated with painful dysesthesias and clumsiness in both hands. 10 years before presentation he had received a diagnosis of megaloblastic anemia, with no neurological involvement, as a result of vitamin B-12 and folate deficiency, for which he was receiving regular supplements.Investigations. Neurological examination; routine laboratory testing; MRI of the spine and brain; lumbar puncture; electromyography; sensory, motor and visual evoked potentials, optic nerve optical coherence tomography; immunoelectrophoresis; cryoglobulins; immunological and infection tests; screening for onconeural antibodies; measurement of serum metabolic values, including vitamins B-12 and E, folates, homocysteine, copper, zinc and pyruvic acid; transketolase activity; gastrointestinal endoscopies; and the glucose breath test.Diagnosis. Subacute sensory ataxia with bilateral optic neuropathy related to thiamine deficiency resulting from remote partial gastrectomy.Management. Parenteral thiamine supplementation followed by chronic oral thiamine and short-term, low-dose multivitamins.