|CASE IN POINT - NEURORADIOLOGY
|Year : 2018 | Volume
| Issue : 4 | Page : 273-276
Scurvy mimicking juvenile idiopathic arthritis in two pediatric patients
B Harikrishnan, Suma Balan
Department of Clinical Immunology and Rheumatology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
|Date of Web Publication||18-Nov-2018|
Dr. Suma Balan
Department of Clinical Immunology and Rheumatology, Amrita Institute of Medical Sciences and Research Centre, Ponekkara Post, Kochi, Kerala
Source of Support: None, Conflict of Interest: None
Scurvy, though previously reported from developing countries, is now being increasingly reported from developed countries. Although rare in pediatric population, it is well known to cause lower-extremity pain and refusal to walk in children. Here, we summarize two cases of scurvy in young children who presented with difficulty to walk. Both of them came with a provisional diagnosis of oligoarticular juvenile idiopathic arthritis. The first case underwent extensive evaluation before the diagnosis of scurvy was made. Dietary histories eventually revealed that both had limited intake of fruits and vegetables, as first patient existed on a diet of milk products and a nutritional supplement provided by the state government. The second patient had autism. Radiographic changes of long bones were observed in both patients. Both of them had a Vitamin C level of <0.1 mg/dl. After replacement with Vitamin C, both patients recovered and started to walk again. This case series highlights the importance for rheumatologists to have a higher index of suspicion for scurvy in children presenting with pain and difficulty to bear weight.
Keywords: Autism, Nutritional, Oligoarticular juvenile idiopathic arthritis, Radiographic, Scurvy
|How to cite this article:|
Harikrishnan B, Balan S. Scurvy mimicking juvenile idiopathic arthritis in two pediatric patients. Indian J Rheumatol 2018;13:273-6
| Introduction|| |
Scurvy is a constellation of clinical manifestations caused by physiologic Vitamin C deficiency. It was a disease very much prevalent in the past, especially among the sailors. Although it is more seen secondary to malnutrition in developing countries, more and more cases are now being reported from developed nations. Patients with scurvy can present with clinical features that mimic primary rheumatologic, infectious, or hematologic conditions. As the disease is rare in these days, scurvy as a possible diagnosis is often overlooked by physicians. This leads to extensive laboratory and radiographic testing and unnecessary delays in diagnosis and treatment.
| Case Reports|| |
A 3-year-old boy presented to the rheumatology department with a diagnosis of oligoarticular juvenile idiopathic arthritis (JIA) made elsewhere after extensive evaluation. He came with progressive difficulty to walk since the last 6 months. Although he had a delay in his gross motor milestones, his fine motor, social, and language milestones were normal. His neonatal period was stormy owing to his premature delivery and resultant mild hypoxic-ischemic encephalopathy; however, his subsequent development was normal. On examination, he was irritable and in pain on weight bearing. The child's weight was 10 kg (below the 5th percentile for his age group) and height was 85 cm (below the 15th percentile for his age group). He was afebrile, and he had no pallor or hepatosplenomegaly or lymphadenopathy. Musculoskeletal examination revealed fullness and tenderness of both knee joints with no obvious synovitis/effusion. Other systemic examination was within normal limits. The laboratory results are shown in [Table 1]. The radiograph of the knee was initially interpreted as diffuse osteopenia. Ultrasound of the knees showed no evidence of joint effusion or synovial hypertrophy or hyperemia within the knee or hip joints bilaterally. Magnetic resonance imaging of the extremity was done to rule out any malignancy in view of the red flag sign of inability to bear weight. It showed only a symmetric prominence of bone marrow bilaterally which was physiological. He was started on NSAIDs.
Initially, the child showed mild transient improvement in symptoms. However, his symptoms reappeared and he was readmitted. This time his dietary habit was reviewed and his mother informed that the child existed on a diet of milk products and a well-known nutritional supplement –“Amrutham mix,” provided by the State Government through Anganwadis. There was a complete lack of fruits and vegetables in his diet, and Vitamin C was not present in the supplement. Considering the severe pain of child even to touch and pseudoparalysis like condition and the bizarre feeding habit, nutritional disorders in general, and scurvy, in particular, was suspected. Serum Vitamin C levels were sent for and his X-rays were reviewed. Now, irregular thickened white line at the metaphysis of both femurs and tibiae [white line of Frenkel, white arrow in [Figure 1]a, a zone of rarefaction under the metaphysis [Trummerfeld's zone, bold white arrow in [Figure 1]a, and ring epiphysis [white double arrow in [Figure 1]a along with diffuse osteopenia was now identified. A provisional diagnosis of scurvy was made. He was started on Vitamin C supplementation (500 mg/day) and within 48 h, his pain decreased. He was sent home and his mother was educated about dietary modification. Four weeks later, he could run without pain. His serum Vitamin C levels done outside had come by review and were undetectable. His repeat X-ray [Figure 1]b showed complete resolution of osteopenia and other signs, and since then, he has made a complete recovery.
|Figure 1: (a) X-ray both knees (standing) anteroposterior view at the presentation of case 1 showing white line of Frenkel-white arrow; Trummerfeld's zone-bold white arrow; ring epiphysis-white double arrow with diffuse osteopenia. (b) X-ray both knees (standing) anteroposterior view after 1 month of case 1 showing resolution of signs|
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A 6-year-old child, who is a known case of autism, was referred to us as a case of oligoarticular JIA. He had normal mobility previously and presented with complaints of progressive bilateral knee pain and occasional ankle pain without any swelling. He was having difficulty to walk or bear weight for the last 2 months. On examination, the child was in pain and he showed features suggestive of autism and had mild fever. His vitals were stable, and he had no pallor or lymphadenopathy or hepatosplenomegaly. Other systems were grossly normal. There was no clinical synovitis, but he resisted the extension of both knees. All other joints were grossly normal. His routine investigations are shown in [Table 1]. X-ray [Figure 2] showed diffuse osteopenia with metaphyseal changes such as ill-defined sclerotic and lucent metaphyseal bands. As autistic children are known for their food faddism and bizarre dietary habits, his dietary habit was asked for. His mother informed that he eats only biscuits and occasionally noodles. Given this bizarre diet, musculoskeletal complaints and X-ray showing osteopenia with metaphyseal changes, a provisional diagnosis of scurvy was made. He was started on Vitamin C supplementation and within 24 h of starting medicines, his pain decreased. Vitamin C level in blood was undetectable. His parents were advised regarding the importance of proper diet and they were discharged to their native land to the care of the local pediatrician. Telephone follow-up confirmed that the child was doing well and had resumed walking (contacted his father over the phone). He was not on any medication except for the strict diet adherence.
|Figure 2: X-ray both knees (standing) anteroposterior view at the presentation of case 2 showing diffuse osteopenia, submetaphyseal rarefaction, ring epiphysis, and irregular thickened white line at the metaphysis|
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| Discussion|| |
Scurvy is a potentially fatal disease occurring in individuals who consume inadequate amounts of fresh fruit or vegetables. The true prevalence of scurvy in pediatric population is unknown. According to a cross-sectional study by the National Health and Nutritional Examination Survey done during 2003–2006, the prevalence of Vitamin C deficiency in civilians 6 years or older in the United States is about 6%. In that study, the prevalence was 0.8% in 6–11-year-old age group and approximately 2% in adolescents. Thus, it is less prevalent among small children.
Humans and other primates cannot synthesize their own Vitamin C due to mutation in the gene coding for L-gulonolactone oxidase. This is the enzyme required for the biosynthesis of Vitamin C. Vitamin C is a water-soluble essential micronutrient involved in many biologic and biochemical functions. It is a potent antioxidant and a cofactor for several enzymes which are involved in the biosynthesis of collagen, carnitine, and neurotransmitters. The symptoms of scurvy are due to decreased synthesis of collagen which leads to weakening of skeleton and vasculature.
Some of the musculoskeletal manifestations of scurvy are myalgia, arthralgia, limb weakness, extremity swelling, subperiosteal hemorrhage, hemarthrosis, intramuscular hematoma, and osteopenia/osteoporosis. In a retrospective study of 28 children with scurvy in Thailand, the most common presenting complaints were inability to walk (96%) and tenderness of lower limbs (86%). Both cases discussed presented with lower limb pain and inability to bear weight and were initially misdiagnosed as in that series. An infection causing fever, in Case 2, might have increased the metabolic needs associated and unmasked the subclinical Vitamin C deficiency.
Limited intake of fresh fruits and vegetables is the chief cause of scurvy; the recommended daily intake of Vitamin C in children varies with age: 0–6 months – 40 mg/dl; 6–12 months – 50 mg/dl; 1–3 years – 15 mg/dl; 4–8 years – 25 mg/dl; 9–13 years – 45 mg/dl; 14–18 years – 65–75 mg/dl.
In children, groups reported to be at risk include those with oral aversions or inadequate nutritional intake due to various causes including developmental delay, cerebral palsy, and pervasive developmental disorders. Infants who are fed evaporated or boiled milk are also at risk of developing scurvy. Both cases discussed had behavioral abnormalities and oral aversions. Ratanachu-Ek et al. found that 89% of the cases were supplemented with ultra-heat temperature milk. Case 1 had bizarre dietary habit that he took only milk and milk products and a nutritional supplement. As he was taking the supplement, it was presumed that he had no nutritional deficiency. It was only when the contents of Amrutham mix examined [Table 2] that we came to know the deficiency in it. The second case was already diagnosed with autism and the child had significant food faddism, before his presentation with scurvy.
|Table 2: The contents of Amrutham mix (from Amrutham nutrimix consortium)|
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Many radiographic changes include osteonecrosis, osteopenia, and cortical thinning with periosteal proliferation. Some of the specific signs are the Frankel sign (zone of calcification at the margin of growth plate), Wimberger sign (calcification around the epiphysis), and scurvy line (lucency adjacent to metaphyseal sclerotic line). X-rays of both cases discussed showed diffuse osteopenia, ring epiphysis, white line of Frenkel, and submetaphyseal rarefaction.
The diagnosis of scurvy is clinical, based on characteristic symptoms and a history of poor intake of Vitamin C-containing foods. The practical and best confirmatory method for diagnosis of scurvy is the resolution of the manifestations with Vitamin C supplementation. Plasma Vitamin C level can be used, although it does not always reflect tissue levels of Vitamin C. This is because a recent intake in Vitamin C-containing food can give normal blood levels. The diagnosis of Vitamin C deficiency is usually considered when the plasma concentration is <0.19 mg/dL. Vitamin C levels of both patients were <0.1 mg/dL.
Scurvy is a nutritional deficiency, and hence, other nutritional deficiencies should also be looked for. Both patients had low normal Vitamin D levels. Vitamin D deficiency had also been described as a comorbidity in other scurvy reports. It should be included in the differential diagnosis of difficult walking in previously ambulant children.
The treatment of scurvy is Vitamin C supplementation and to correct the condition that led to the deficiency. There is no established regimen for Vitamin C supplementation in scurvy. Regimens of 1 g/d for 2 weeks or 100–200 mg/d for a longer period have achieved complete recovery.
Both patients were started on Vitamin C 500 mg daily once and symptoms decreased significantly within 48 h.
| Conclusion|| |
Scurvy, though rare, is still present in our population. Diagnosis of scurvy is difficult and may be missed if not suspected. Lower-extremity pain, limp, and refusal to walk are common presenting complaints of scurvy. In children with oral aversion, autism spectrum disorder and nutritional neglect with difficulty walking, scurvy should be considered in the differential diagnosis. The nutritional supplement should include Vitamin C. Vitamin C supplementation with correction of underlying conditions is essential to prevent recurrence.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]
[Table 1], [Table 2]