Hanna L Kassa, S Singh, M Douglas-Jones, Gill Schermbrucker, J De Lange, Frank Phoya, Claire Butters, Carol Hlela, Ashton Coetzee, Ebrahim Banderker, Kate Webb
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Early recognition and prompt intervention are essential to prevent the progression of symptomatic vitamin C deficiency in children.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"56"},"PeriodicalIF":2.8000,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Scurvy masquerading as IgA vasculitis.\",\"authors\":\"Hanna L Kassa, S Singh, M Douglas-Jones, Gill Schermbrucker, J De Lange, Frank Phoya, Claire Butters, Carol Hlela, Ashton Coetzee, Ebrahim Banderker, Kate Webb\",\"doi\":\"10.1186/s12969-024-00992-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":54630,\"journal\":{\"name\":\"Pediatric Rheumatology\",\"volume\":\"22 1\",\"pages\":\"56\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-05-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Rheumatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12969-024-00992-2\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Rheumatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12969-024-00992-2","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
背景:维生素 C 缺乏症或坏血病虽然罕见,但对饮食不规律、资源有限或有吸收不良问题的儿童却有风险。患有全面发育迟缓、自闭症谱系障碍和肢体残疾的儿童中,有限制性或选择性饮食习惯的儿童也可能会患上坏血病。症状包括疲劳、易怒、关节和肌肉疼痛、关节肿胀、水肿、牙龈肿胀、容易瘀伤和伤口愈合延迟。要防止儿童症状性维生素 C 缺乏症的恶化,早期识别和及时干预至关重要:本病例是一名继发于伦诺克斯-加斯陶特综合征(Lennox Gastaut Syndrome)、发育迟缓的 13 岁男孩,因怀疑其患有复发性、严重和不典型的 IgA 血管炎而转诊。他表现为烦躁、食欲不振、下肢瘀点和瘀斑、单侧牙龈肿胀、严重关节炎、外周水肿、严重消瘦、贫血和炎症指标升高。在确诊坏血病之前,进行了多项检查。手术发现牙龈组织易碎,多颗牙齿松动,皮肤活检发现毛囊角化过度和毛囊周围红细胞外渗,再加上典型的X光检查结果,最终确诊为坏血病:结论:对于出现肌肉骨骼问题、皮肤黏膜不适以及乏力、气喘、烦躁和食欲不振等体质症状的患者,坏血病应作为鉴别诊断予以仔细考虑。有针对性地详细了解饮食史,查找是否缺乏维生素 C 的良好来源,是鉴别这一疾病的一个简便指标。显示典型特征的影像学检查也有助于诊断。通过皮肤病理检查发现病理特征可以增加诊断的确定性。在其他条件都不具备的情况下,使用适当剂量的维生素 C 对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.
Case presentation: 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.
Conclusion: 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.
期刊介绍:
Pediatric Rheumatology is an open access, peer-reviewed, online journal encompassing all aspects of clinical and basic research related to pediatric rheumatology and allied subjects.
The journal’s scope of diseases and syndromes include musculoskeletal pain syndromes, rheumatic fever and post-streptococcal syndromes, juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, local and systemic scleroderma, Kawasaki disease, Henoch-Schonlein purpura and other vasculitides, sarcoidosis, inherited musculoskeletal syndromes, autoinflammatory syndromes, and others.