Depuis Zoé, Gatineau-Sailliant Sophie, Ketelslegers Olivier, Minon Jean-Marc, Seghaye Marie-Christine, Vasbien Myriam, Dresse Marie-Françoise
Department of Pediatrics, University Hospital Liège, Avenue de l'Hôpital 1, 4000 Liege, Belgium.
Department of Laboratory Medicine, Regional Hospital of Liège, Boulevard du 12ème de Ligne 1, 4000 Liege, Belgium.
Pediatr Rep. 2022 Mar 3;14(1):106-114. doi: 10.3390/pediatric14010016.
We report a case of severe pancytopenia in a 15-year-old patient due to a severe deficiency in vitamin B12 and folic acid, probably of nutritional origin. The clinical and biological course was favorable after vitamin supplementation. With this case, we discuss the diagnostic approach of pancytopenia with megaloblastic anemia in children and adolescents, as well as the mechanisms involved in vitamin B12 and B9 deficiency. Hypovitaminosis B12 is known in its severe form but its diagnosis is often made difficult by insidious signs and symptoms. Traditional intramuscular replacement therapy has now proven to be effective orally. The clinical manifestations of folic acid deficiency are relatively similar to those of vitamin B12 deficiency, reflecting their intricate co-enzymatic functions. Its supplementation is administered orally.
我们报告一例15岁患者因严重缺乏维生素B12和叶酸(可能源于营养缺乏)导致的严重全血细胞减少症。补充维生素后,临床和生物学过程良好。通过这个病例,我们讨论了儿童和青少年巨幼细胞贫血伴全血细胞减少症的诊断方法,以及维生素B12和B9缺乏所涉及的机制。维生素B12严重缺乏症为人所知,但其隐匿的体征和症状常常使其诊断困难。传统的肌肉注射替代疗法现已证明口服同样有效。叶酸缺乏的临床表现与维生素B12缺乏相对相似,反映了它们复杂的辅酶功能。其补充剂通过口服给药。