# Case report: A Boy with an inability to walk; do not forget about scurvy

**Authors:** Emira Mansor Noor Emilia, Abdul Hadi Said

PMC · DOI: 10.51866/cr.590 · 2024-05-14

## TL;DR

A boy with autism and walking difficulties was diagnosed with scurvy due to poor diet and recovered with vitamin C treatment.

## Contribution

Highlights scurvy as a rare but important differential diagnosis in children with unexplained mobility issues.

## Key findings

- The patient showed symptoms like limb pain and hyperpigmented scars, consistent with scurvy.
- Low ascorbic acid levels confirmed the diagnosis of scurvy.
- The patient improved significantly with vitamin C supplementation and nutritional support.

## Abstract

Scurvy, a condition caused by vitamin C deficiency, is characterized by a syndrome of multisystem disorder due to defective collagen production and antioxidative function. This condition is infrequent in this modern era; thus, it is often not within the list of differential diagnoses. The broad clinical picture is generally overlooked as other systemic illnesses, resulting in an extensive investigation that delays the diagnosis. Herein, we report a case of an 8-year-old boy with underlying autism spectrum disorder who presented with lower limb pain and other constitutional symptoms. Examination revealed multiple hyperpigmented scars over the upper and lower limbs and gingival hyperpigmentation. With history of picky eating habits and clinical symptoms supported by radiographic findings, scurvy was suspected and subsequently confirmed based on a low level of ascorbic acid. With vitamin C supplementation and proper nutritional support, the patient recovered well.

## Linked entities

- **Chemicals:** vitamin C (PubChem CID 54670067), ascorbic acid (PubChem CID 9888239)
- **Diseases:** scurvy (MONDO:0009412), autism spectrum disorder (MONDO:0005258)

## Full-text entities

- **Diseases:** multisystem disorder (MESH:D019578), Scurvy (MESH:D012614), autism spectrum disorder (MESH:D000067877), vitamin C deficiency (MESH:D001206), hyperpigmented scars (MESH:D002921), lower limb pain (MESH:D010146), gingival hyperpigmentation (MESH:D017495)
- **Chemicals:** ascorbic acid (MESH:D001205)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11162535/full.md

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Source: https://tomesphere.com/paper/PMC11162535