Golriz Farahnaz, Donnelly Lane F, Devaraj Sridevi, Krishnamurthy Raj
Department of Radiology, Texas Children's Hospital, 6701 Fannin St., Suite 470, Houston, TX, 77030, USA.
Department of Pathology and Laboratory Medicine, Texas Children's Hospital, Houston, TX, USA.
Pediatr Radiol. 2017 Feb;47(2):214-220. doi: 10.1007/s00247-016-3726-4. Epub 2016 Oct 24.
Until recently scurvy has been viewed in developed countries as a disease of the past. More recently there have been reports of case series of children with scurvy who have had a delayed diagnosis after an extensive diagnostic workup that included imaging. Most of these children have had underlying neurologic conditions such as autism.
To review the medical records of children diagnosed with vitamin C (ascorbic acid) deficiency based on serum ascorbic acid levels at a large pediatric health care system, to determine imaging findings and utility of imaging in management, and to identify at-risk pediatric populations.
We retrospectively identified cases of vitamin C deficiency in children tested for serum ascorbic acid levels during the last 5 years. We used the criteria of normal ascorbic acid >23 μmol/L and included children with ascorbic acid levels <23 μmol/L. We evaluated their clinical history, underlying medical condition, imaging studies obtained and imaging findings.
We identified 32 children with vitamin C deficiency. All of these children had underlying medical conditions, most commonly iron overload from multiple transfusions related to sickle cell anemia or thalassemia (20), neurologic disorders (4) and bone marrow transplant/chemotherapy (3). No cases of scurvy from dietary deficiency in otherwise normal children were identified. All except two children had multiple imaging studies, primarily related to their underlying conditions. Three of these children had extensive imaging workups related to diffuse musculoskeletal pain. Imaging findings included ill-defined sclerotic and lucent metaphyseal bands (mainly at the knee) on radiography and MRI studies that showed diffuse increased T2-weighted signal in the bilateral lower-extremity long-bone metaphyses, periosteal reaction and adjacent soft-tissue edema.
Vitamin C deficiency is not uncommon in large pediatric health care facilities, and it is frequently missed on clinical evaluation and diagnostic imaging. At-risk populations include those with iron overload, neurologic conditions and history of chemotherapy. Scurvy related to dietary deficiency in otherwise normal children was not encountered. When characteristic MRI findings are seen, particularly in children with a predisposing condition for vitamin C deficiency, scurvy should be considered and a serum ascorbic acid level checked to potentially confirm a diagnosis prior to further invasive tests.
直到最近,坏血病在发达国家一直被视为一种过去的疾病。最近有报道称,一系列坏血病患儿在经过包括影像学检查在内的广泛诊断评估后,诊断出现延迟。这些儿童大多有潜在的神经系统疾病,如自闭症。
回顾在一个大型儿科医疗系统中根据血清维生素C水平诊断为维生素C(抗坏血酸)缺乏的儿童的病历,以确定影像学表现及影像学在治疗中的作用,并确定高危儿科人群。
我们回顾性地确定了过去5年中检测血清维生素C水平的儿童维生素C缺乏病例。我们采用正常抗坏血酸>23μmol/L的标准,纳入抗坏血酸水平<23μmol/L的儿童。我们评估了他们的临床病史、潜在疾病、获得的影像学检查及影像学表现。
我们确定了32例维生素C缺乏的儿童。所有这些儿童都有潜在疾病,最常见的是与镰状细胞贫血或地中海贫血相关的多次输血导致的铁过载(20例)、神经系统疾病(4例)和骨髓移植/化疗(3例)。未发现其他方面正常的儿童因饮食缺乏而患坏血病的病例。除两名儿童外,所有儿童都进行了多次影像学检查,主要与他们的潜在疾病有关。其中三名儿童因弥漫性肌肉骨骼疼痛进行了广泛的影像学检查。影像学表现包括X线片上不明确的硬化和透亮干骺端带(主要在膝关节),MRI研究显示双侧下肢长骨干骺端T2加权信号弥漫性增加、骨膜反应和相邻软组织水肿。
维生素C缺乏在大型儿科医疗设施中并不少见,在临床评估和诊断影像学中经常被漏诊。高危人群包括铁过载、神经系统疾病和有化疗史的人群。未遇到其他方面正常的儿童因饮食缺乏而患坏血病的情况。当出现特征性MRI表现时,特别是在有维生素C缺乏易感因素的儿童中,应考虑坏血病,并在进一步进行侵入性检查之前检查血清抗坏血酸水平以潜在地确诊。