Internal Medicine, Florida State University College of Medicine, Tallahassee, Florida, USA.
Internal Medicine, Florida State University College of Medicine, Tallahassee, Florida, USA
BMJ Case Rep. 2024 Aug 31;17(8):e260967. doi: 10.1136/bcr-2024-260967.
This case report presents a male in his 30s with pernicious anaemia, initially diagnosed with autoimmune haemolytic anaemia and thrombocytopenia. Despite improvement with treatment, he developed bilateral leg weakness and numbness, ultimately diagnosed as peripheral neuropathy. Further investigations revealed a spectrum of haematological and neurological manifestations associated with B12 deficiency, challenging the typical illness script of pernicious anaemia. This report underscores the importance of recognising variations in clinical presentation and highlights the need for expanded illness scripts to guide accurate diagnosis and management.
本病例报告介绍了一位 30 多岁的男性,患有恶性贫血,最初被诊断为自身免疫性溶血性贫血和血小板减少症。尽管经过治疗有所改善,但他出现了双侧下肢无力和麻木,最终被诊断为周围神经病。进一步的检查显示出一系列与 B12 缺乏相关的血液学和神经系统表现,这挑战了恶性贫血的典型疾病过程。本报告强调了认识临床表现变化的重要性,并突出了需要扩展疾病过程以指导准确诊断和管理的必要性。