{"title":"Case report: A Boy with an inability to walk; do not forget about scurvy.","authors":"Emira Mansor Noor Emilia, Abdul Hadi Said","doi":"10.51866/cr.590","DOIUrl":null,"url":null,"abstract":"<p><p>Scurvy, a condition caused by vitamin C deficiency, is characterized by a syndrome of multisystem disorder due to defective collagen production and antioxidative function. This condition is infrequent in this modern era; thus, it is often not within the list of differential diagnoses. The broad clinical picture is generally overlooked as other systemic illnesses, resulting in an extensive investigation that delays the diagnosis. Herein, we report a case of an 8-year-old boy with underlying autism spectrum disorder who presented with lower limb pain and other constitutional symptoms. Examination revealed multiple hyperpigmented scars over the upper and lower limbs and gingival hyperpigmentation. With history of picky eating habits and clinical symptoms supported by radiographic findings, scurvy was suspected and subsequently confirmed based on a low level of ascorbic acid. With vitamin C supplementation and proper nutritional support, the patient recovered well.</p>","PeriodicalId":40017,"journal":{"name":"Malaysian Family Physician","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162535/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Malaysian Family Physician","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.51866/cr.590","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Nursing","Score":null,"Total":0}
引用次数: 0
Abstract
Scurvy, a condition caused by vitamin C deficiency, is characterized by a syndrome of multisystem disorder due to defective collagen production and antioxidative function. This condition is infrequent in this modern era; thus, it is often not within the list of differential diagnoses. The broad clinical picture is generally overlooked as other systemic illnesses, resulting in an extensive investigation that delays the diagnosis. Herein, we report a case of an 8-year-old boy with underlying autism spectrum disorder who presented with lower limb pain and other constitutional symptoms. Examination revealed multiple hyperpigmented scars over the upper and lower limbs and gingival hyperpigmentation. With history of picky eating habits and clinical symptoms supported by radiographic findings, scurvy was suspected and subsequently confirmed based on a low level of ascorbic acid. With vitamin C supplementation and proper nutritional support, the patient recovered well.
坏血病是一种由维生素 C 缺乏引起的疾病,其特征是由于胶原蛋白生成和抗氧化功能缺陷导致的多系统紊乱综合征。这种疾病在现代社会并不常见,因此往往不在鉴别诊断的范围之内。其广泛的临床表现通常会被忽视为其他系统疾病,从而导致广泛的检查而延误诊断。在此,我们报告了一例患有自闭症谱系障碍的 8 岁男孩的病例。检查发现他的上肢和下肢有多处色素沉着疤痕,牙龈也有色素沉着。由于有挑食的习惯和临床症状,再加上影像学检查结果的支持,医生怀疑他患有坏血病,随后根据低水平的抗坏血酸进行了确诊。通过补充维生素 C 和适当的营养支持,患者恢复良好。
期刊介绍:
The Malaysian Family Physician is the official journal of the Academy of Family Physicians of Malaysia. It is published three times a year. Circulation: The journal is distributed free of charge to all members of the Academy of Family Physicians of Malaysia. Complimentary copies are also sent to other organizations that are members of the World Organization of Family Doctors (WONCA).