一例由于迟发性钴胺素C (CblC)缺乏症导致的年轻成人维生素B12缺乏症神经综合征:一个诊断挑战

IF 3.8 3区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Scott Ailliet, R. Vandenberghe, Toon Schiemsky, L. van Overbeke, P. Demaerel, W. Meersseman, D. Cassiman, P. Vermeersch
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引用次数: 0

摘要

维生素B12缺乏可表现为神经和精神症状,而无大细胞贫血症。我们描述了一例晚发性钴胺素C缺乏症,通常表现为血清维生素B12浓度正常,这对诊断提出了额外的挑战。一名肌肉力量下降并出现幻觉的23岁女性被诊断为“紧张性抑郁症”,并住进了一家精神卫生机构。3个月后,她被转诊到我们医院接受进一步调查。异记忆症显示,症状在几个月内逐渐演变。大脑磁共振成像(MRI)显示两半球弥漫性对称性白质病变。包括维生素B12和叶酸在内的常规实验室检查正常,但轻度正常细胞、正常铬性贫血除外。在接下来的6周里,她的症状恶化,对刺激没有反应。新的核磁共振扫描显示白质病变的进展。神经学家要求血浆同型半胱氨酸(Hcys)是正常上限的8倍多。进一步的检测显示甲基丙二酸增加,患者被诊断为成人发作的钴胺素C缺乏症。该病例表明,在出现提示维生素B12缺乏的神经精神症状的患者中,应在血清维生素B12正常的情况下测定Hcys和/或甲基丙二酸,以排除晚发性钴胺素C缺乏症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge
Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with decreased muscle strength and hallucinations was diagnosed with ‘catatonic depression’ and admitted to a residential mental health facility. She was referred to our hospital for further investigation 3 months later. Heteroanamnesis revealed that the symptoms had been evolving progressively over several months. Magnetic resonance imaging (MRI) of the brain showed diffuse symmetrical white matter lesions in both hemispheres. Routine laboratory tests including vitamin B12 and folic acid were normal except for a slight normocytic, normochromic anaemia. Over the next 6 weeks her symptoms deteriorated, and she became unresponsive to stimuli. A new MRI scan showed progression of the white matter lesions. The neurologist requested plasma homocysteine (Hcys) which was more than 8 times the upper limit of normal. Further testing revealed increased methylmalonic acid and the patient was diagnosed with adult-onset cobalamin C deficiency. This case illustrates that Hcys and/or methylmalonic acid should be determined in patients presenting with neuropsychiatric symptoms suggestive of vitamin B12 deficiency with a normal serum vitamin B12 to rule out a late-onset cobalamin C deficiency.
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来源期刊
Biochemia Medica
Biochemia Medica 医学-医学实验技术
CiteScore
5.50
自引率
3.00%
发文量
70
审稿时长
>12 weeks
期刊介绍: Biochemia Medica is the official peer-reviewed journal of the Croatian Society of Medical Biochemistry and Laboratory Medicine. Journal provides a wide coverage of research in all aspects of clinical chemistry and laboratory medicine. Following categories fit into the scope of the Journal: general clinical chemistry, haematology and haemostasis, molecular diagnostics and endocrinology. Development, validation and verification of analytical techniques and methods applicable to clinical chemistry and laboratory medicine are welcome as well as studies dealing with laboratory organization, automation and quality control. Journal publishes on a regular basis educative preanalytical case reports (Preanalytical mysteries), articles dealing with applied biostatistics (Lessons in biostatistics) and research integrity (Research integrity corner).
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