对称性假性手足动症:亚急性合并脊髓变性伴危及生命的血栓栓塞危险的罕见表现。

IF 0.9 Q4 CLINICAL NEUROLOGY
Case Reports in Neurological Medicine Pub Date : 2025-08-04 eCollection Date: 2025-01-01 DOI:10.1155/crnm/1862715
Ramsha Siddiqui, Johanna Canenguez, Nithisha Thatikonda, Awab Elaneem, Fernandez Jorge Rodriguez
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引用次数: 0

摘要

维生素B12缺乏可引起亚急性合并变性(SACD)通过破坏髓磷脂合成,导致脊髓变性。我们报告了一个独特的SACD病例,其特征是对称性假手足动症,其特征是本体感觉障碍导致的不自主、缓慢和扭动运动,这破坏了大脑准确感知肢体位置和运动的能力,并由于同型半胱氨酸水平升高而导致肺栓塞。34岁男性,表现为胸痛,全身无力,手脚麻木。两个月前,患者出现剧烈胸痛,随后出现上肢和下肢进行性麻木和无力。神经学检查显示无颈僵,脑神经功能正常,下肢轻触和振动感觉受损。手脚震颤,提示假性手足动症,已存在6个月。实验室检查证实严重的维生素B12缺乏症(< 159 pg/mL),高同型半胱氨酸和全血细胞减少症。脊柱MRI显示与SACD一致的高信号,胸部CT显示大鞍状肺栓塞。恶性贫血被证实是维生素B12缺乏的原因。患者接受静脉注射维生素B12治疗,导致神经系统明显改善。本病例是第一例有文献记载的SACD,表现为四肢对称的假性手足动症。认识到这种罕见的临床症状是必不可少的,因为它可以指导早期诊断和治疗。此外,与维生素B12缺乏相关的高同型半胱氨酸血症是血栓栓塞的一个重要危险因素,强调了对不明原因血栓事件患者进行筛查的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Symmetric Pseudoathetosis of Hands and Feet: A Rare Manifestation of Subacute Combined Cord Degeneration With Life-Threatening Thromboembolic Risk.

Vitamin B12 deficiency can cause subacute combined degeneration (SACD) by disrupting myelin synthesis, leading to spinal cord degeneration. We present a unique case of SACD featuring symmetrical pseudoathetosis characterized by involuntary, slow, and writhing movements resulting from proprioceptive sensory impairment, which disrupts the brain's ability to accurately perceive limb position and movement and pulmonary embolism due to elevated homocysteine levels. A 34-year-old male presented with chest pain, generalized weakness, and numbness in his hands and feet. Two months prior, he experienced sharp chest pain, followed by progressive numbness and weakness in his upper and lower extremities. Neurological examination revealed no nuchal stiffness, normal cranial nerve function, and impaired light touch and vibration sensation in the lower extremities. Tremulousness in the hands and feet, suggestive of pseudoathetosis, had been present for 6 months. Laboratory tests confirmed severe vitamin B12 deficiency (< 159 pg/mL), elevated homocysteine, and pancytopenia. MRI of the spine showed hyperintense signals consistent with SACD, and a chest CT revealed a large saddle pulmonary embolus. Pernicious anemia was confirmed as the cause of vitamin B12 deficiency. The patient was treated with intravenous vitamin B12, leading to significant neurological improvement. This case is the first documented instance of SACD presenting with symmetrical pseudoathetosis in all four extremities. Recognizing this rare clinical sign is essential, as it can guide early diagnosis and treatment. In addition, hyperhomocysteinemia associated with vitamin B12 deficiency is a significant risk factor for thromboembolism, underscoring the need for screening in patients with unexplained thrombotic events.

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