PT - JOURNAL ARTICLE AU - Goyne, Christopher AU - Kansal, Leena TI - Pearls &Oy-sters:迟发性钴胺素C缺乏症伴亚急性联合变性AID - 10.1212/WNL.0000000000201695DP - 2023 07年3月TA -神经学首页PG - 486—489 VI - 100 IP - 10 4099 - //www.ez-admanager.com/content/100/10/486.short 4100 - //www.ez-admanager.com/content/100/10/486.full SO -神经学2023 07年3月;100ab -钴胺素C (CblC)缺乏是一种罕见的先天性钴胺素(维生素B12)代谢错误，导致膳食维生素B12的细胞内处理受损。这导致了广泛的临床表现，包括认知障碍、精神症状、脊髓病、血栓性事件、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，但也可能出现在成年期。由于这种情况的罕见性及其无数的临床表现，在成人中的诊断可能具有挑战性。CblC缺乏症是可以治疗的，因此早期诊断对预防永久性神经损伤很重要。虽然CblC缺乏是由维生素B12代谢缺陷引起的，但B12水平仍然正常。诊断依赖于检测由维生素B12功能障碍改变的代谢物，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.