Abstract
Scurvy is a rare disease in developed nations. In the field of pediatrics, it primarily is seen in children with developmental and behavioral issues, malabsorptive processes, or diseases involving dysphagia. We present the case of an otherwise developmentally appropriate 4-year-old boy who developed scurvy after gradual self-restriction of his diet. He initially presented with a limp and a rash and was subsequently found to have anemia and hematuria. A serum vitamin C level was undetectable, and after review of the MRI of his lower extremities, the clinical findings supported a diagnosis of scurvy. Although scurvy is rare in developed nations, this diagnosis should be considered in a patient with the clinical constellation of lower-extremity pain or arthralgias, a nonblanching rash, easy bleeding or bruising, fatigue, and anemia. This case highlights the importance of carefully assessing a child’s dietary and developmental status at well-child visits, which can help avoid a more invasive workup.
- ESR —
- erythrocyte sedimentation rate
- IgA —
- immunoglobulin A
Scurvy is caused by a lack of dietary vitamin C intake, with early symptoms including fatigue, weakness, and a lack of appetite. Later symptoms include follicular hyperkeratosis, gingival bleeding, corkscrew hairs, petechiae, purpura, arthralgias, myalgias, hemarthrosis, microfractures, bone pain, bone loss, and osteoporosis.1 The symptoms of scurvy are due to defective collagen production because vitamin C is essential for proper collagen formation.1
In the pediatric population, scurvy occurs almost exclusively in children with autism, developmental and behavioral issues, malabsorptive processes, or iron overload, and in disorders causing dysphagia or impaired swallowing.1–5 Scurvy in an otherwise healthy child is a rare occurrence and is not commonly cited in pediatric literature. Self-restrictive diets due to “picky eating” could lead to nutritional deficiencies in otherwise developmentally appropriate children. We present a case of a 4-year-old boy with a restricted diet diagnosed with scurvy and highlight many of the unique features of this case.
Initial Presentation
A seemingly healthy 4-year-old boy presented to our orthopedic clinic with right-leg pain and had been limping for 3 weeks after a recent fall at school. He had been diagnosed with streptococcal pharyngitis 2 weeks before his symptoms and was treated with a full course of antibiotics. Plain radiographs of the tibia, fibula, and knees bilaterally were unremarkable (Fig 1). On physical examination, he had a marked limp favoring the right side and limited abduction and internal and external rotation of the right hip. He did not have tenderness, erythema, or warmth of either lower extremity. His neurologic examination result was normal. He was referred to rheumatology clinic because of concern for poststreptococcal reactive arthritis or transient synovitis. At the rheumatology clinic, a review of systems was notable for an intermittent rash (Fig 2) over the arms and legs for the past 2 years, with little improvement seen with the use of topical emollients. His developmental history was notable for speech delay, which had resolved without intervention. He was doing well in prekindergarten and meeting all developmental milestones at the time of presentation. He was found to be at the 10th percentile for weight and 18th percentile for height, and there was no history of weight loss or reduced height velocity. On examination, he did not have any rashes other than mild atopic dermatitis and petechiae around his venipuncture site. His initial laboratory workup was notable for an elevated erythrocyte sedimentation rate (ESR) of 17 mm per hour (Table 1). Antistreptolysin O antibody and anti-DNase B antibody levels were found to be within normal limits. Naproxen was prescribed for pain.
Anteroposterior radiographs of both knees demonstrate no fracture or periosteal reaction. Subtle growth-arrest lines are noted in the distal femurs bilaterally, which are nonspecific. L, left; R, right.
Petechial rash noted on presentation to the rheumatology clinic.
Results of Laboratory Tests: Preadmission Through Day of Admission +2
On follow-up in the rheumatology office, he was noted to have worsening limp with refusal to bear weight and a new rash on his lower extremities, which was follicular with nonblanching pinpoint lesions. Further history revealed some easy bleeding with brushing of his teeth, and he was found to have mild gingivitis on examination. Considering his evolving physical examination findings, including a petechial rash and not being able to bear weight, our differential was broadened to include malignancy, vasculitidies, and vitamin C deficiency. Further laboratory work was sent, which showed an ESR of 39, hemoglobin of 7.9, and microscopic hematuria (Table 1). Given his progression of symptoms to the point of acutely not bearing weight, additional imaging was done. An ultrasound showed trace joint fluid in the right hip, which was symmetric when compared with the left hip. An MRI of the pelvis and femurs was ordered because of the persistent clinical suspicion for an infectious or inflammatory process (Fig 3), which did not show any abnormality of the hips but did show bilateral symmetric marrow edema in the distal femoral metaphyses with periostitis and prominent surrounding soft-tissue edema that were concerning for multifocal osteomyelitis or malignancy. A surgical bone biopsy with culture and pathology was performed.
Coronal inversion recovery (A) demonstrates symmetric abnormal hyperintense signal within the bilateral distal femoral metaphyses (arrows) in A with corresponding T1 hypointensity (arrows in B) and adjacent periostitis (arrowheads). Also note the abnormal signal within the soft tissues adjacent to the distal femurs.
Hospital Admission and Course
The patient was admitted postoperatively for empirical antibiotics and further workup. Nephrology was consulted for his microscopic hematuria. Complement component 3 and 4 levels were found to be within normal limits. Hepatic transaminases, thyroid function, and serum calcium were also noted to be within normal limits (Table 1). Additional laboratories showed iron-deficiency anemia and vitamin D deficiency (Tables 1 and 2). His serum vitamin C level result was returned 48 hours after it was sent in our rheumatology office as <5 μmol/L, which led to a diagnosis of scurvy. The reference range for vitamin C is 24 to 114; levels >24 are considered normal, levels 11 to 23 are mild to moderate deficiency, and levels <11 are severe deficiency.2 A detailed dietary history revealed that the patient had a limited diet consisting of primarily of waffles, yogurt, pasta with butter, goldfish crackers, peanut butter, chicken nuggets, and water. The parents reported that the patient’s diet had always been picky and had gradually narrowed from age 18 months through 4 years. Celiac disease was considered as a possible malabsorptive cause of scurvy; however, his tissue transglutaminase immunoglobulin A (IgA) and total IgA levels were within normal limits.
Results of Laboratory Tests: Day of Admission +3 and After
The patient was started on vitamin C supplementation at 100 mg every 8 hours for 1 week followed by 100 mg daily along with iron, vitamin D, and a multivitamin. His bone culture results were negative, and his bone biopsy showed evidence of chronic inflammation and no evidence of malignancy. His pain and ambulation quickly improved. On hospital day 8, he was discharged with follow-up appointments, including nutrition and feeding therapy. At his 3-month follow-up, his pain had resolved, and he was ambulating normally. Additionally, his vitamin C and vitamin D levels normalized, and his anemia and hematuria had resolved.
Discussion
Our case is unique in that a 4-year-old child with no known gastrointestinal disorder, normal swallowing, and no diagnosis of autism or a neurodevelopmental disorder developed scurvy by gradually restricting his diet. Imaging studies are often obtained in children who present with diffuse musculoskeletal pain, and osteomyelitis is commonly a differential consideration in cases of scurvy.4,5 If one is not familiar with the imaging features of scurvy, it is easy to misinterpret the abnormalities on MRI as something more ominous yet more common, such as osteomyelitis or a malignancy, as occurred in this case. In many of the recently described cases in the literature, there is often an extensive workup involving invasive procedures and a delay in the diagnosis of scurvy.1,4–6
Classically described radiographic findings of scurvy that were not present in our case include a Pelkan spur, which represents a healing metaphyseal pathologic fracture, and a Wimberger ring sign, which denotes a thin sclerotic cortex surrounding a lucent epiphysis.3,6–8 Periosteal new bone formation secondary to subperiosteal hemorrhage, a dense provisional calcification immediately adjacent to the physis (Frankel line), and an adjacent lucent band more diaphyseal in location (Trummerfeld line) are also classically described.6–8 In our case, these findings were not present.
MRI is sensitive although not specific for findings related to scurvy. Although metaphyseal signal abnormalities are nonspecific and can be seen with hematologic malignancies, metastatic disease, and osteomyelitis, the presence of bilateral symmetric lower-extremity metaphyseal signal changes, periosteal reaction, and adjacent soft-tissue edema should raise the possibility of scurvy.7,8 In children with extremity pain and MRI findings suggestive of scurvy, obtaining a dietary history and a serum vitamin C level can confirm a diagnosis of scurvy and avoid more invasive diagnostic tests.
Identification of scurvy or any other nutritional deficiency in the pediatric population should prompt a search for a secondary cause. Malabsorptive processes, such as celiac disease and Crohn disease, can present insidiously in children and should be considered, especially in the setting of poor growth. It should also be noted that elevated ESR and anemia are commonly seen in scurvy.9–11 The relationship between scurvy and elevated ESR is not well understood.9 Elevated C-reactive protein and fibrinogen are also seen in scurvy.11 Anemia is often due to concurrent iron or folate deficiency and is also possibly due to chronic microhemorrhages, gastrointestinal losses, or intravascular hemolysis.10 Our patient had iron deficiency, normal folate levels, and normocytic anemia.
Humans cannot synthesize vitamin C, so we depend strictly on exogenous contribution. Vitamin C, unlike many other vitamins, is not stored in the body and can deplete quickly if the diet becomes deficient. A minimal daily intake of vitamin C is required.12,13 For children ages 4 to 8, the minimum daily recommended amount is 25 mg.14 Symptoms usually begin ∼1 to 3 months after inadequate vitamin C intake.15 Vitamin C is an essential cofactor for collagen synthesis, and defective collagen synthesis in scurvy leads to characteristic dermatologic and skeletal findings.1 These are generally seen once serum levels become deficient (<11.4 μmol/L).11,15
Although scurvy is rare in developed nations, this diagnosis should be considered in a clinical constellation of lower-extremity pain, nonblanching rash, easy bleeding or bruising, fatigue, anemia, or arthralgias. It is important to frequently reassess a child’s dietary history and developmental status because developmental and behavioral issues can evolve subtly over the first few years of a child’s life. Nutritional etiologies should be included on the differential diagnosis for children who develop a serious illness, and it is critical to keep in mind the physical examination findings of vitamin deficiencies. Identifying nutritional deficiencies through a thorough dietary evaluation can help avoid hospitalization and expensive diagnostic studies, such as MRI, bone biopsy, and extensive laboratory tests. A nutritional survey should be considered before the initiation of any invasive testing, and a daily multivitamin should be considered for children with a restricted diet. Children with a restricted diet can be referred to a nutritionist or feeding therapist to ensure that they receive adequate nutrition from their diet to avoid easily correctable nutritional deficiencies and diseases such as scurvy.
Footnotes
- Accepted May 17, 2019.
- Address correspondence to Andrew Nastro, MD, Department of Pediatrics, Bellevue Hospital Center, Administration Building, 3rd Floor, Room A314, 462 1st Avenue, New York, NY 10016. E-mail: Andrew.Nastro@NYULangone.org
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
FUNDING: No external funding.
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
References
- Copyright © 2019 by the American Academy of Pediatrics
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