Yonpiam Manta, Pongpitakmetha Thanakit, Laohapiboolrattana Wattakorn, Viswanathan Anand, Amornvit Jakkrit
Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Buddhasothorn Hospital, Ministry of Public Health, Chachoengsao, Thailand.
Neurohospitalist. 2025 Sep 23:19418744251382396. doi: 10.1177/19418744251382396.
Subacute combined degeneration (SCD) is characterized by demyelination primarily affecting the dorsal column and lateral corticospinal tracts. It typically presents with paresthesia in the feet and progresses to involve the upper extremities. SCD is commonly associated with nutritional deficiencies, particularly deficiencies of vitamin B12, folate, or copper. Neurological disorders solely caused by isolated folate deficiency are uncommon. Classic presentations of folate deficiency include fatigue, lethargy, glossitis, diarrhea, and the gradual development of megaloblastic anemia. Early SCD diagnosis and treatment, even in the absence of hematological signs, are imperative to prevent irreversible neurological deficits and achieve favorable outcomes. We present a patient with IgG4-related disease who developed subacute sensory ataxia and generalized hyperreflexia. She was eventually diagnosed with SCD, which was attributed to isolated folate deficiency caused by critical illness-related malnutrition and concomitant co-trimoxazole use. Her clinical and neurological examination findings improved at the subsequent 2-week follow-up after effective treatment. Finally, she was able to walk and run independently. This case emphasizes the importance of early recognition of this rare presentation and prompt treatment, which can significantly contribute to better neurological outcomes.
亚急性联合变性(SCD)的特征是脱髓鞘,主要影响脊髓后索和外侧皮质脊髓束。其典型表现为足部感觉异常,并逐渐发展至累及上肢。SCD通常与营养缺乏有关,尤其是维生素B12、叶酸或铜缺乏。单纯由孤立性叶酸缺乏引起的神经系统疾病并不常见。叶酸缺乏的典型表现包括疲劳、嗜睡、舌炎、腹泻以及巨幼细胞贫血的逐渐发展。即使在没有血液学体征的情况下,早期诊断和治疗SCD对于预防不可逆的神经功能缺损并取得良好预后也至关重要。我们报告一例患有IgG4相关疾病的患者,该患者出现亚急性感觉性共济失调和全身反射亢进。她最终被诊断为SCD,病因是危重病相关营养不良和同时使用复方新诺明导致的孤立性叶酸缺乏。在有效治疗后的2周随访中,她的临床和神经系统检查结果有所改善。最后,她能够独立行走和跑步。该病例强调了早期识别这种罕见表现并及时治疗的重要性,这可显著有助于改善神经功能预后。