The Pitfall in Differential Diagnosis of Musculoskeletal Symptoms in Children

Abstract

S curvy is a well-known disorder caused by vitamin C deficiency. Its clinical spectrum is quite variable and can mimic several infectious, inflammatory, or oncological conditions. These factors contribute to frequent misdiagnosis of scurvy in pediatric age. Patients often require medical attention for musculoskeletal symptoms and undergo an extensive workup before final diagnosis. In the present case series, we describe 4 children diagnosed with scurvy in the

A Narrative Review on Pediatric Scurvy: The Last Twenty Years

“…Musculoskeletal complaints were the most frequently described manifestations (92%); particularly, severe pain in the lower limbs (88%) with refusal to walk (73%) and limping (31%). These manifestations are present in a high but variable rate of patients with scurvy, ranging from 67% [ 44 ] to 100% [ 18 , 45 , 46 ] in the different series. Rarely, pain in the back (1%) or the upper limbs (1%) was referred, too.…”

“…Difficulty in diagnostic assessment and the differential diagnosis was underlined by several authors: 11 studies reported the interval between clinical onset and diagnosis, ranging from one week [ 47 ] to 2 years [ 48 ]; when available, the median interval was 2 months, calculated on 9 studies [ 4 , 5 , 18 , 45 , 46 , 49 , 50 , 51 , 52 ]. Thirty patients (18%) underwent invasive diagnostic exams: 11 bone marrow aspiration/biopsy, five bone biopsy, three gingival biopsies, two bone scintigraphy, two head CT scans, two chest-abdomen CT scans, two brain MRIs, one muscle biopsy and one lumbar puncture.…”

“…Inflammatory markers were evaluated in 7 studies [ 4 , 46 , 47 , 48 , 50 , 51 , 52 ], assessing a total number of 42 patients, and were found to be elevated in 25 (59%). In particular, erythrocyte sedimentation rate (ESR) was elevated in 15 cases and C-reactive protein (CRP) in 13 cases.…”

“…Anemia is another hallmark of scurvy, and it may be secondary to a combination of bleeding and decreased iron absorption or abnormal folate metabolism. It was assessed in 83 cases in 12 studies [ 4 , 5 , 18 , 44 , 45 , 46 , 47 , 48 , 49 , 51 , 52 , 53 ] and present in 46% of children. Complete nutritional blood tests should be performed and may reveal further multiple and severe vitamins deficiencies.…”

“…Complete nutritional blood tests should be performed and may reveal further multiple and severe vitamins deficiencies. Eight studies [ 4 , 18 , 46 , 47 , 48 , 49 , 50 , 51 ] reported other associated vitamin deficiencies in 45 patients, overall. The most frequently found was vitamin D deficiency (60%), followed by vitamin B1, B6 and A (9%, each one) deficiencies; other vitamins or minerals deficiencies were reported in lower percentages.…”