Pustelnik Ewa, Pikora Katarzyna, Hartman Magdalena Zofia, Kurzeja Marta, Czuwara Joanna, Łaguna Paweł
Department of Oncology, Pediatric Hematology, Clinical Transplantology and Pediatrics, Medical University of Warsaw, Warsaw, Poland.
Laboratory of Cytohematology, Department of Oncology, Pediatric Hematology, Clinical Transplantology and Pediatrics, Medical University of Warsaw, Warsaw, Poland.
J Blood Med. 2025 Aug 25;16:391-411. doi: 10.2147/JBM.S524466. eCollection 2025.
Vitamin B12 (cobalamin) deficiency is a well-known cause of hematologic and neurological disorders; however, its presentation can be highly variable, leading to diagnostic challenges. The etiology is diverse: while the most common cause is dietary insufficiency, other potential causes include malabsorption syndromes, autoimmune gastritis, gastrointestinal disorders, chronic infections, and genetic defects. Clinical presentation varies significantly, ranging from clinically silent macrocytosis to life-threatening anemia or pancytopenia. Neurological and psychiatric manifestations may include vision and gait impairment, depression, and cognitive dysfunction. Given this complexity, vitamin B12 deficiency can mimic other conditions, often leading to a delay in diagnosis.
A 15-year-old male was admitted in critical condition with severe anemia, thrombocytopenia, jaundice, progressive weight loss, fatigue, gait disturbances, and vision impairment. Initially, Evan's syndrome was suspected, but further laboratory investigations, including a peripheral blood smear and elevated mean corpuscular volume (MCV), led to the diagnosis of profound vitamin B12 deficiency. Additional workup revealed chronic atrophic gastritis as the underlying cause. The patient was treated with vitamin B12 injections, leading to significant hematologic and neurological improvement, weight gain, and resolution of psychiatric symptoms. However, optic nerve atrophy was detected as a late complication.
This case emphasizes the need to consider vitamin B12 deficiency in pediatric patients with unexplained hematologic, neurological, and psychiatric symptoms, particularly when associated with chronic atrophic gastritis. Early recognition and intervention are crucial to preventing irreversible complications, such as optic neuropathy. Given the multidisciplinary nature of its presentation, this case serves as an important reminder for pediatricians, hematologists, gastroenterologists, and neurologists to maintain a high index of suspicion for vitamin B12 deficiency in complex clinical scenarios.
维生素B12（钴胺素）缺乏是血液系统和神经系统疾病的一个众所周知的病因；然而，其表现形式可能高度多变，导致诊断面临挑战。病因多种多样：虽然最常见的原因是饮食不足，但其他潜在原因包括吸收不良综合征、自身免疫性胃炎、胃肠道疾病、慢性感染和基因缺陷。临床表现差异很大，从临床上无症状的大细胞性贫血到危及生命的贫血或全血细胞减少。神经和精神方面的表现可能包括视力和步态障碍、抑郁和认知功能障碍。鉴于这种复杂性，维生素B12缺乏可能会与其他病症相似，常常导致诊断延迟。
一名15岁男性因严重贫血、血小板减少、黄疸、进行性体重减轻、疲劳、步态障碍和视力损害而病情危急入院。最初怀疑是伊文氏综合征，但进一步的实验室检查，包括外周血涂片和平均红细胞体积（MCV）升高，最终诊断为严重维生素B12缺乏。进一步检查发现慢性萎缩性胃炎是根本原因。患者接受了维生素B12注射治疗，血液学和神经方面有显著改善，体重增加，精神症状也得到缓解。然而，视神经萎缩被检测为后期并发症。
本病例强调，对于有不明原因血液、神经和精神症状的儿科患者，尤其是伴有慢性萎缩性胃炎时，需要考虑维生素B12缺乏。早期识别和干预对于预防不可逆并发症（如视神经病变）至关重要。鉴于其表现具有多学科性质，本病例提醒儿科医生、血液科医生、胃肠科医生和神经科医生，在复杂的临床情况下要对维生素B12缺乏保持高度怀疑。
