Severe vitamin C deficiency in an otherwise healthy child who presented with progressive weakness

We present a case of an otherwise healthy 5-year-old child who presented with a two-month history of bone pain, refusal to bear weight, and fatigue. In addition, his parents reported that he is a "picky eater” consuming only dairy pudding and pizza with no fruits nor vegetables. On physical examination, proximal muscle weakness, as well as positive Gower sign, were noted as the main findings. Differential diagnosis included bone infection, inflammatory or metabolic bone disease, Duchenne Muscular Dystrophy and malignancy. Thorough diagnostic work-up revealed extremely low vitamin C levels. Subsequent Magnetic resonance imaging (MRI) of his lower limbs and spine showed multifocal bony signal abnormalities and bilateral metaphyseal changes consistent with scurvy. Consequently, intravenous treatment with vitamin C was initiated and led to significant clinical improvement. The diagnosis of isolated Avoidant/Restrictive Food Intake Disorder was made.

Scurvy is a multisystem disease caused by ascorbic acid deficiency. In this condition collagen maturation is impaired and as a result affects connective tissues such as cartilage, bones, tendons, ligaments, and skin. Therefore, vitamin C depletion can lead to symptoms such as lethargy, bone pain, gingivitis, impaired wound healing, myalgia, impaired bone growth and pseudoparalysis. Previous reports of children with scurvy were documented in patients with concomitant medical conditions, such as malabsorption, or behavioral conditions such as autism. This case demonstrates that scurvy can also occur in otherwise healthy children who are "picky eaters", and highlights the importance of nutritional evaluation.