Nadine Anne De Battista, Marie Claire Zammit, Sandro Galea Soler, Stephen Attard
{"title":"Gait Disturbance … of Red Herrings, Oranges, and Lemons - A Case of Missed Vitamin C Deficiency and Lessons Learnt.","authors":"Nadine Anne De Battista, Marie Claire Zammit, Sandro Galea Soler, Stephen Attard","doi":"10.14712/18059694.2024.5","DOIUrl":null,"url":null,"abstract":"<p><p>Vitamin C deficiency resulting in scurvy, is considered to be a rare nutritional disorder in developed countries, thus leading to underdiagnosis with exposure to unnecessary investigations and delay in appropriate treatment. The wide myriad of clinical signs and symptoms with which vitamin C deficiency can present (including haematological, musculoskeletal and vague constitutional symptoms that overlap with other common medical conditions), also contributes to this diagnostic challenge. Despite scurvy being habitually thought to be present in children with neurodevelopmental conditions such as autism spectrum disorder, other important at-risk groups that frequently tend to be forgotten include children with persistent fussy eating behaviour, and children with abnormal vitamin C metabolism. We hereunder present a case of a 10-year-old boy who presented to an acute general hospital for further investigation with gait disturbance. The lack of detailed nutritional assessment on presentation in the first instance led to a missed diagnosis of vitamin C deficiency, thus exposing the child to a wide array of unnecessary investigations and treatments. The added perplexity to the case resulting from false positive results of investigations performed as part of this child's workup, is also discussed.</p>","PeriodicalId":101400,"journal":{"name":"Acta medica (Hradec Kralove)","volume":"66 3","pages":"122-127"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta medica (Hradec Kralove)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14712/18059694.2024.5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Vitamin C deficiency resulting in scurvy, is considered to be a rare nutritional disorder in developed countries, thus leading to underdiagnosis with exposure to unnecessary investigations and delay in appropriate treatment. The wide myriad of clinical signs and symptoms with which vitamin C deficiency can present (including haematological, musculoskeletal and vague constitutional symptoms that overlap with other common medical conditions), also contributes to this diagnostic challenge. Despite scurvy being habitually thought to be present in children with neurodevelopmental conditions such as autism spectrum disorder, other important at-risk groups that frequently tend to be forgotten include children with persistent fussy eating behaviour, and children with abnormal vitamin C metabolism. We hereunder present a case of a 10-year-old boy who presented to an acute general hospital for further investigation with gait disturbance. The lack of detailed nutritional assessment on presentation in the first instance led to a missed diagnosis of vitamin C deficiency, thus exposing the child to a wide array of unnecessary investigations and treatments. The added perplexity to the case resulting from false positive results of investigations performed as part of this child's workup, is also discussed.
在发达国家,维生素 C 缺乏导致的坏血病被认为是一种罕见的营养失调症,因此导致诊断不足、不必要的检查和适当治疗的延误。维生素 C 缺乏症可表现出多种临床症状和体征(包括血液学症状、肌肉骨骼症状以及与其他常见疾病重叠的模糊体征),这也是造成诊断困难的原因之一。尽管人们习惯性地认为患有自闭症谱系障碍等神经发育疾病的儿童也会出现坏血病,但其他一些重要的高危人群却常常被遗忘,其中包括有持续挑食行为的儿童和维生素 C 代谢异常的儿童。我们在下文中介绍了一个病例:一名 10 岁男孩因步态障碍到一家急诊综合医院接受进一步检查。由于首次就诊时缺乏详细的营养评估,导致漏诊为维生素 C 缺乏症,从而使患儿接受了一系列不必要的检查和治疗。此外,本文还讨论了在该患儿的检查过程中出现的假阳性检查结果给该病例带来的更多困惑。