PT -期刊文章AU - Goyne, Christopher AU - Kansal, Leena TI - Pearls &迟发性钴胺素C缺乏表现为亚急性合并退行性变[j] - 10.1212/WNL.0000000000201695DP - 2023 07年3月TA -神经学半岛投注体育官网PG - 486- 489 VI - 100 IP - 10 4099 - //www.ebmtp.com/content/100/10/486.short 4100 - //www.ebmtp.com/content/100/10/486.full SO -神经学2023年3月07;100 AB -钴胺素C (CblC)缺乏症是一种罕见的先天性钴胺素(维生素B12)代谢错误，导致饮食中维生素B12的细胞内加工受损。这导致广泛的临床表现，包括认知障碍、精神症状、脊髓病、血栓事件、肾小球肾炎和肺动脉高压。CblC缺乏症通常出现在儿科人群中，但也可能出现在成人中。由于这种情况的罕见性及其无数的临床表现，成人的诊断可能具有挑战性。CblC缺乏症是可以治疗的，因此早期诊断对于预防永久性神经损伤非常重要。尽管CblC缺乏是由于维生素B12代谢缺陷造成的，但B12水平仍保持正常。诊断依赖于检测因维生素B12功能障碍而改变的代谢物，如甲基丙二酸(MMA)和同型半胱氨酸。 We presented a case of a 20-year-old woman who presented with chronic progressive lower extremity weakness and sensory changes. She was eventually diagnosed with subacute combined degeneration because of CblC deficiency and effectively treated. This case highlights the importance of considering inborn errors of metabolism in adult patients and including testing of metabolites such as MMA and homocysteine when suspecting vitamin B12 dysfunction.