PDF(Pubmed)
Abstract：
Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background of autism, presenting bed-bound due to progressive bilateral lower limb pain, with concomitant rashes, bleeding gums and worsening lethargy. Detailed dietary history revealed a severely restricted diet. Physical examination showed bilateral lower limb ecchymoses, perifollicular hemorrhages, perifollicular hyperkeratosis and cockscrew hairs which are pathognomonic features of scurvy. A low serum ascorbic acid level confirmed the diagnosis. Therapy with oral vitamin C supplement and rehabilitation with multidisciplinary care was successful, with complete resolution of symptoms. This case emphasises the importance of thorough dietary evaluation in children with autism and food selectivity presenting with non-specific symptoms. Physician awareness of nutritional deficiencies avoids unnecessary extensive investigations and sub-specialty referrals and translates to savings in medical expenses.
摘要：
镰刀,由抗坏血酸（维生素C）缺乏引起的疾病，是现代世界的一种罕见疾病。我们报告了一个童年男孩的案例，有自闭症的背景，由于进行性双侧下肢疼痛而出现卧床，伴随皮疹，牙龈出血和嗜睡恶化。详细的饮食史显示饮食受到严格限制。体格检查显示双侧下肢瘀斑，卵泡周出血，毛囊周围角化过度和鸡头毛，这是镰刀的病理特征。低血清抗坏血酸水平证实了诊断。口服维生素C补充剂和多学科护理的康复治疗是成功的，症状完全解决。这个案例强调了对自闭症和食物选择性表现出非特异性症状的儿童进行全面饮食评估的重要性。医生对营养缺乏的认识避免了不必要的广泛调查和亚专科转诊，并转化为节省医疗费用。
