Paediatric scurvy: frequently misdiagnosed

Area of Science:

• Biochemistry
• Pediatrics
• Nutrition

Background:

• Paediatric scurvy is rare but associated with neurodevelopmental disorders and restricted eating patterns.
• Clinical presentation is often non-specific, leading to diagnostic delays and misdiagnosis as other systemic illnesses.
• Early recognition is crucial to prevent prolonged investigations and potential complications.

Observation:

• A case report of a 4-year-old boy with autism presenting with bilateral lower limb pain and refusal to walk.
• The child exhibited a highly restricted diet.
• Radiographic evidence and confirmed low ascorbic acid levels strongly indicated scurvy.

Findings:

• Diagnosis of scurvy was confirmed through biochemical testing revealing critically low ascorbic acid levels.
• Treatment involved ascorbic acid replenishment and ongoing maintenance therapy.
• Significant clinical improvement was observed following treatment.

Implications:

• Highlights the importance of considering scurvy in at-risk pediatric populations, especially those with autism and dietary restrictions.
• Emphasizes the need for a high index of suspicion among clinicians to avoid unnecessary invasive diagnostic procedures.
• Underscores the effectiveness of timely ascorbic acid supplementation in reversing the effects of scurvy.