Küçükçongar Yavaş Aynur, Engin Erdal Ayşenur, Çıtak Kurt Ayşegül Neşe, Kurt Tuba, Cankurt İlknur, Ünal Uzun Özlem
Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye.
Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Çankaya, Ankara, Türkiye.
J Pediatr Endocrinol Metab. 2023 May 17;36(7):708-711. doi: 10.1515/jpem-2023-0129. Print 2023 Jul 26.
Severe vitamin C deficiency, or scurvy, presents as a syndrome of multisystem abnormalities associated with defective collagen synthesis and antioxidative functions. The many clinical features of scurvy lead to frequent misdiagnoses, as they can often point to other diseases, such as vasculitis, venous thrombosis and musculoskeletal disorders. As such, an extensive workup is recommended in cases in which scurvy is suspected.
A 21-month-old male patient and a 36-month-old female patient presented with difficulty in walking, painful joint movements, irritability, gingival hypertrophy and bleeding. After exhaustive investigations and risky invasive procedures, vitamin C deficiency was diagnosed in both cases, and the symptoms improved dramatically with vitamin C treatment.
The importance of taking a dietary history in pediatric patients is highly recommended. In cases where scurvy is considered, serum ascorbic acid levels should be checked to confirm the diagnosis prior to conducting invasive tests.
严重维生素C缺乏症,即坏血病,表现为与胶原蛋白合成缺陷和抗氧化功能相关的多系统异常综合征。坏血病的许多临床特征常导致误诊,因为它们往往指向其他疾病,如血管炎、静脉血栓形成和肌肉骨骼疾病。因此,对于疑似坏血病的病例,建议进行全面检查。
一名21个月大的男性患者和一名36个月大的女性患者出现行走困难、关节活动疼痛、易怒、牙龈肥大和出血。经过详尽的检查和有风险的侵入性操作后,两例均诊断为维生素C缺乏症,维生素C治疗后症状显著改善。
强烈建议在儿科患者中了解饮食史的重要性。对于考虑坏血病的病例,在进行侵入性检查之前应检查血清抗坏血酸水平以确诊。