Scurvy hidden behind neuropsychiatric symptoms

Area of Science:

• Pediatrics
• Nutritional Science
• Rare Diseases

Background:

• Diagnostic delays are common for rare diseases, even with typical symptoms.
• Nutritional deficiencies pose diagnostic challenges, often overlooked initially.
• Pediatric patients with unusual symptoms require comprehensive diagnostic approaches.

Observation:

• A 2.5-year-old child presented with autistic-like behavior, severe muscle weakness, and pain.
• Initial investigations focused on non-nutritional disorders, including a muscle biopsy.
• Muscle biopsy revealed selective type II fiber hypotrophy, a non-specific finding.

Findings:

• Scurvy, a vitamin C deficiency, was eventually diagnosed in the child.
• The diagnosis was prompted by reviewing the child's peculiar dietary history.
• Typical scurvy symptoms were present but initially overshadowed by other concerns.

Implications:

• Highlights the importance of considering nutritional deficiencies in pediatric differential diagnoses.
• Emphasizes the need for thorough dietary history assessment in complex pediatric cases.
• Suggests that atypical presentations of common deficiencies can lead to diagnostic delays.