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一名29个月大出现Gower征的坏血病患者

Scurvy in a 29-Month-Old Patient Presenting With a Gower Sign.

作者信息

Monroig-Rivera Carlos A, Valentín-Martínez Keishla C, Portalatín-Pérez Edwin

机构信息

Department of Medicine, Ponce Health Sciences University, Ponce, PRI.

Department of Orthopedic Surgery, Mayagüez Medical Center, Mayagüez, PRI.

出版信息

Cureus. 2022 Sep 19;14(9):e29342. doi: 10.7759/cureus.29342. eCollection 2022 Sep.

Abstract

Scurvy is a preventable condition caused by a severe vitamin C deficiency for prolonged periods. Most literature cases describe children with neurobehavioral disorders or extreme dietary restrictions. Vitamin C deficiency may be a rare clinical presentation in the developed world; hence, it is often overlooked and can lead to extensive workups when the history alone could have raised suspicion for the diagnosis. We report a previously healthy 29-month-old boy initially admitted to the hospital due to loss of ambulation over a three-week course. The patient had no history of fever, and the inflammatory parameters were normal. Blood workup, plain radiographs, and magnetic resonance imaging (MRI) of the right lower extremity were unremarkable. The patient was discharged home with antibiotics and anti-inflammatory medication but arrived a week later with worsening lower extremity weakness leading to complete loss of ambulation. Vitamin C deficiency was confirmed to be below normal levels (<0.4mg/dL), and a diagnosis of scurvy was confirmed and treated with oral ascorbic acid. Subsequently, his mother brought him to the orthopedic clinic with a positive Gower sign. CPK levels were normal. Within a month of ascorbic acid replacement, all symptoms disappeared. Our patient was a picky eater, which emphasizes the importance of early dietary screening to discover the underlying cause of symptoms. Vitamin C deficiency should be part of the differential diagnosis in patients with unremarkable laboratory workup for infection and other diseases presenting with a Gower sign.

摘要

坏血病是一种可预防的疾病,由长期严重缺乏维生素C引起。大多数文献病例描述的是患有神经行为障碍或饮食极度受限的儿童。在发达国家,维生素C缺乏可能是一种罕见的临床表现;因此,它常常被忽视,并且当仅根据病史本应引起对该诊断的怀疑时,可能会导致进行大量检查。我们报告了一名此前健康的29个月大男孩,最初因在三周内失去行走能力而入院。该患者无发热病史,炎症指标正常。右下肢的血液检查、X线平片和磁共振成像(MRI)均无异常。患者带着抗生素和抗炎药物出院回家,但一周后因下肢无力加重导致完全失去行走能力再次就诊。维生素C缺乏被证实低于正常水平(<0.4mg/dL),坏血病的诊断得到确认,并给予口服抗坏血酸治疗。随后,他的母亲带他到骨科诊所,发现有阳性Gower征。肌酸磷酸激酶(CPK)水平正常。在补充抗坏血酸的一个月内,所有症状均消失。我们的患者是挑食者,这强调了早期饮食筛查以发现症状潜在原因的重要性。对于感染及其他表现为Gower征的疾病实验室检查无异常的患者,维生素C缺乏应作为鉴别诊断的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da07/9581726/adcb6ea7fba7/cureus-0014-00000029342-i01.jpg

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