背景:维生素C缺乏,或者镰刀病,是罕见的,但对饮食不良的儿童构成风险,资源有限,或吸收不良的问题。在全球发育迟缓的儿童中,有限制性或选择性饮食习惯的儿童也可能很常见。自闭症谱系障碍,和身体残疾。症状包括疲劳,烦躁,关节和肌肉疼痛,关节膨胀,水肿,牙龈肿胀,容易擦伤,和延迟的伤口愈合。早期识别和及时干预对于预防儿童有症状的维生素C缺乏症的进展至关重要。
方法:我们介绍了一例因怀疑复发性LennoxGastaut综合征继发发育迟缓的13岁男孩,严重,和非典型IgA血管炎。他表现出烦躁,食欲不振,瘀斑和瘀斑下肢病变,单侧牙龈肿胀,严重的关节炎,外周水肿,严重的体重减轻,贫血,并提高了炎症标志物。在做出镰刀病诊断之前进行了多次调查。手术发现有多个松动牙齿的易碎牙龈组织,毛囊角化过度和毛囊周围红细胞外渗的皮肤活检,和典型的X线检查结果导致了镰刀病的诊断。
结论:在表现为肌肉骨骼问题的患者中,应仔细考虑作为鉴别诊断,粘膜皮肤投诉,和全身症状,如不适,虚弱,烦躁,和食欲不振。一个集中和详细的饮食历史寻找缺乏良好的维生素C来源可以是这种差异的一个简单的指标。成像研究揭示典型特征也可以帮助做出诊断。揭示病理特征的皮肤病理学可以增加诊断的确定性。在没有其他一切的情况下,对适当剂量的维生素C治疗的快速反应具有诊断和治疗作用。
BACKGROUND: Vitamin C deficiency, or
scurvy, is rare but poses risks for children with poor diets, limited resources, or malabsorption issues. It may also be common in children with restrictive or selective dietary habits in children with global developmental delay, autism spectrum disorder, and physical disabilities. Symptoms include fatigue, irritability, joint and muscle pain, joint swellings, edema, swollen gums, easy bruising, and delayed wound healing. Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children.
METHODS: We present a case of a 13-year-old boy with developmental delay secondary to Lennox Gastaut syndrome referred for suspected recurrent, severe, and atypical IgA vasculitis. He presented with irritability, loss of appetite, petechial and ecchymotic lower limb lesions, unilateral gum swelling, severe arthritis, peripheral oedema, severe weight loss, anaemia, and raised inflammatory markers. Multiple investigations were performed before the diagnosis of
scurvy was made. A surgical finding of friable gingival tissue with multiple loose teeth, a skin biopsy with follicular hyperkeratosis and extravasated perifollicular red blood cells, and a typical X-ray finding led to the diagnosis of
scurvy.
CONCLUSIONS: Scurvy should be given careful consideration as a differential diagnosis in patients presenting with musculoskeletal issues, mucocutaneous complaints, and constitutional symptoms such as malaise, asthenia, irritability, and loss of appetite. A focused and detailed dietary history looking for a lack of good sources of vitamin C can be an easy indicator of this differential. Imaging studies revealing the typical features can also help make the diagnosis. Pathology of the skin revealing pathognomonic features can add to the certainty of the diagnosis. In the absence of all else, the rapid response to treatment with an appropriate dose of vitamin C has a diagnostic and therapeutic role.