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Published on: January 29, 2018
Scurvy presenting as difficulty in walking in a child
Heidi Nerissa Zhixuan Yu1, Shi Yun Chia2,3
1Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Insights
Scurvy, a rare disease from vitamin C deficiency, presented in a child with autism due to a restricted diet. Prompt diagnosis and vitamin C supplementation led to full symptom recovery.
Area of Science:
- Nutrition
- Pediatrics
- Dermatology
Background:
- Scurvy, a condition resulting from ascorbic acid (vitamin C) deficiency, is infrequently encountered in contemporary medicine.
- Autism spectrum disorder (ASD) is often associated with food selectivity, potentially leading to nutritional deficiencies.
Observation:
- A middle childhood boy with autism presented with severe, progressive bilateral lower limb pain, lethargy, rashes, and bleeding gums.
- Physical examination revealed pathognomonic signs of scurvy, including ecchymoses, perifollicular hemorrhages, hyperkeratosis, and cockscrew hairs.
- A severely restricted diet was identified as the likely cause of the deficiency.
Findings:
- Low serum ascorbic acid levels confirmed the diagnosis of scurvy.
- Treatment with oral vitamin C supplementation and multidisciplinary rehabilitation resulted in complete symptom resolution.
Implications:
- This case highlights the critical need for comprehensive dietary assessments in children with autism and food selectivity, especially when presenting with non-specific symptoms.
- Increased physician awareness of nutritional deficiencies can prevent extensive investigations and reduce healthcare costs.
- Early identification and management of vitamin C deficiency are crucial for favorable outcomes in pediatric patients.
Abstract:
Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background of autism, presenting bed-bound due to progressive bilateral lower limb pain, with concomitant rashes, bleeding gums and worsening lethargy. Detailed dietary history revealed a severely restricted diet. Physical examination showed bilateral lower limb ecchymoses, perifollicular hemorrhages, perifollicular hyperkeratosis and cockscrew hairs which are pathognomonic features of scurvy. A low serum ascorbic acid level confirmed the diagnosis. Therapy with oral vitamin C supplement and rehabilitation with multidisciplinary care was successful, with complete resolution of symptoms. This case emphasises the importance of thorough dietary evaluation in children with autism and food selectivity presenting with non-specific symptoms. Physician awareness of nutritional deficiencies avoids unnecessary extensive investigations and sub-specialty referrals and translates to savings in medical expenses.
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