Department of Neurology, Shanghai Eighth People's Hospital Affiliated to Jiang Su University, Shanghai, China.
Braz J Med Biol Res. 2021 Jul 16;54(10):e11355. doi: 10.1590/1414-431X2021e11355. eCollection 2021.
The etiology of subacute combined degeneration (SCD) of the spinal cord is closely associated with vitamin B12 (VitB12) deficiency. The clinical manifestations of SCD are complex and vary substantially. Due to some SCD patients with atypical manifestations and concomitant autoimmune disorders, the probability of misdiagnosis and missed diagnosis is still relatively high in the early stage. We report the cases of two patients who were missed or misdiagnosed at another hospital because of the normal initial VitB12 level and partial overlap of clinical manifestations, finally diagnosed as SCD with atypical manifestations and concomitant autoimmune disorders, pharyngeal-cervical-brachial Guillain-Barre syndrome in Case 1 and SCD with autoimmune thyroiditis in Case 2. After undergoing corresponding treatment, death was reported in Case 1 and improvement in Case 2. Analysis of the clinical manifestations and investigation of the underlying pathogenesis in such patients could help improve the rate of early diagnosis and allow timely treatment of SCD, thereby preventing disease progression and poor clinical outcomes.
脊髓亚急性联合变性的病因与维生素 B12（VitB12）缺乏密切相关。脊髓亚急性联合变性的临床表现较为复杂，差异较大。由于部分脊髓亚急性联合变性患者表现不典型，同时合并自身免疫性疾病，因此在早期误诊、漏诊的概率仍相对较高。我们报告了 2 例因初始 VitB12 水平正常且临床表现部分重叠而在另一家医院被误诊或漏诊的患者，最终诊断为表现不典型且合并自身免疫性疾病的脊髓亚急性联合变性：1 例为咽颈臂型 Guillain-Barre 综合征，另 1 例为脊髓亚急性联合变性合并自身免疫性甲状腺炎。2 例患者均接受了相应的治疗，1 例患者死亡，1 例患者病情改善。分析此类患者的临床表现和潜在发病机制，有助于提高早期诊断率，并及时治疗脊髓亚急性联合变性，从而防止疾病进展和不良临床结局。
