Scholarlink

Background <p>Vitamin B12 (VB12) deficiency is a well-recognized cause of subacute combined degeneration (SCD) and megaloblastic anemia (MA). In severe cases, it may manifest as aggressive pancytopenia and dysplastic hematopoiesis that mimic myelodysplastic syndrome (MDS).</p> Case presentation <p> We report a case of a 36-year-old male who developed progressive limb weakness and paresthesia following gastrointestinal symptoms. Laboratory tests revealed acute-onset pancytopenia and markedly elevated lactate dehydrogenase. The evidence of low VB12 level, positive parietal cell and intrinsic factor antibodies, as well as longitudinal extensive dorsal column MRI lesions with inverted V sign supported VB12 deficiency as the underlying cause. Peripheral blood smear and bone marrow aspirate indicated dysplastic hematopoiesis, initially raising concerns for MDS. However, the favorable response to VB12 supplementation confirmed the diagnoses of SCD and MA, with improved numbness and partial ambulation after one month. Intramedullary hemolysis was considered a contributing factor to the acute hematologic aggravation.</p> Conclusions <p>This case highlights the diagnostic pitfalls of VB12 deficiency, which may masquerade as hematologic malignancies. Early recognition and appropriate treatment are crucial to prevent irreversible neurological impairment and unnecessary intervention.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Prominent spinal cord involvement and aggressive pancytopenia: a case of vitamin B12 deficiency mimicking myelodysplastic syndrome

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月18日

查看全文
  • Menghan Zheng

摘要

Background

Vitamin B12 (VB12) deficiency is a well-recognized cause of subacute combined degeneration (SCD) and megaloblastic anemia (MA). In severe cases, it may manifest as aggressive pancytopenia and dysplastic hematopoiesis that mimic myelodysplastic syndrome (MDS).

Case presentation

We report a case of a 36-year-old male who developed progressive limb weakness and paresthesia following gastrointestinal symptoms. Laboratory tests revealed acute-onset pancytopenia and markedly elevated lactate dehydrogenase. The evidence of low VB12 level, positive parietal cell and intrinsic factor antibodies, as well as longitudinal extensive dorsal column MRI lesions with inverted V sign supported VB12 deficiency as the underlying cause. Peripheral blood smear and bone marrow aspirate indicated dysplastic hematopoiesis, initially raising concerns for MDS. However, the favorable response to VB12 supplementation confirmed the diagnoses of SCD and MA, with improved numbness and partial ambulation after one month. Intramedullary hemolysis was considered a contributing factor to the acute hematologic aggravation.

Conclusions

This case highlights the diagnostic pitfalls of VB12 deficiency, which may masquerade as hematologic malignancies. Early recognition and appropriate treatment are crucial to prevent irreversible neurological impairment and unnecessary intervention.