Hara Daisuke, Akamatsu Masashi, Mizukami Heisuke, Kato Bunta, Suzuki Takaaki, Oshima Jun, Hasegawa Yasuhiro
Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, Yokohama, Japan.
Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Kawasaki, Japan.
Case Rep Neurol. 2020 Jan 15;12(1):27-34. doi: 10.1159/000505321. eCollection 2020 Jan-Apr.
Subacute combined degeneration of the spinal cord (SCDS) is a neurodegenerative disease characterized by subacute progression in the central and peripheral nervous systems mainly caused by vitamin B deficiency. It is known that typical SCDS is frequently accompanied by megaloblastic anemia and increased serum methylmalonic acid (MMA) or homocysteine (Hcy) levels on laboratory findings, and marked abnormalities on spinal cord magnetic resonance imaging (MRI). A 45-year-old woman was admitted to our hospital with a 2-year history of worsening mild weakness, numbness in bilateral lower limbs, and gait disturbance. On admission, as laboratory findings, blood count showed macrocytosis without anemia, and biochemical tests showed mild reduction in total serum vitamin B level and no increase of MMA and Hcy levels; there were no abnormal findings on spinal cord MRI. After administration of vitamin B, her sensorimotor symptoms were improved and laboratory examination showed that macrocytosis was improved, serum vitamin B was increased, and serum MMA levels were decreased. This improved clinical course and the laboratory findings following vitamin B administration confirmed the diagnosis of SCDS due to vitamin B deficiency. SCDS presents with highly variable symptoms and laboratory findings, and observation of MMA levels and neurologic symptoms before and after vitamin B administration may be useful for diagnosing SCDS.
脊髓亚急性联合变性(SCDS)是一种神经退行性疾病,其特征为中枢和周围神经系统亚急性进展,主要由维生素B缺乏引起。已知典型的SCDS在实验室检查结果中常伴有巨幼细胞贫血以及血清甲基丙二酸(MMA)或同型半胱氨酸(Hcy)水平升高,并且脊髓磁共振成像(MRI)有明显异常。一名45岁女性因轻度乏力加重、双侧下肢麻木及步态障碍2年病史入院。入院时,实验室检查结果显示血常规有大细胞性但无贫血,生化检查显示血清总维生素B水平轻度降低,MMA和Hcy水平未升高;脊髓MRI无异常发现。给予维生素B后,她的感觉运动症状改善,实验室检查显示大细胞性改善,血清维生素B升高,血清MMA水平降低。这种临床病程的改善以及给予维生素B后的实验室检查结果证实了维生素B缺乏所致SCDS的诊断。SCDS的症状和实验室检查结果差异很大,观察给予维生素B前后的MMA水平和神经症状可能有助于诊断SCDS。