ESPE Abstracts

Background: Vitamin D deficiency in adolescents can lead to rickets, osteomalacia, and skeletal deformities such as genu valgus. Chronic deficiency may also have implications for growth and endocrine function. This case report describes the clinical presentation, management, and outcome of severe Vitamin D deficiency in a 15-year-old black girl with genu valgus and abnormal gait.

Case Presentation: The patient presented with HtSDS of -1.4 and a BMI of +0.4, indicating normal linear growth with a slight increase in BMI. The predominant clinical features were significant genu valgus and an abnormal gait. Laboratory tests revealed an extremely elevated alkaline phosphatase level (4370 U/L), normal Ca level (2.17 mmol/L), a high parathyroid hormone level (PTH 549 pg/mL), critically low Vitamin D levels (4 ng/mL), and evidence of subclinical hypothyroidism consistent with active rickets. X-ray imaging indicated severe metaphyseal decalcification, suggestive of prolonged Vitamin D deficiency. The patient was initiated on high-dose Vitamin D therapy (50,000 units weekly).

Interventions and Outcomes: After three months of therapy, the patient demonstrated improved exercise tolerance and a substantial decrease in alkaline phosphatase and PTH levels. This biochemical response, coupled with normalization of thyroid-stimulating hormone levels, indicated an effective response to Vitamin D supplementation. The marked improvement in biochemistry suggests a positive response to Vitamin D supplementation, with a significant decrease in both alkaline phosphatase and parathyroid hormone levels, which indicates improved bone metabolism. The ongoing management will likely include continued Vitamin D supplementation, monitoring of biochemical markers, and radiological assessments to evaluate the correction of genu valgus and overall bone health.

Conclusion: Early identification and treatment of Vitamin D deficiency are crucial for preventing and correcting bone deformities and ensuring normal growth and endocrine function in adolescents. Long-term deficiency can lead to persistent musculoskeletal issues, and as literature suggests, may also increase the risk of future osteoporosis and fractures. Regular monitoring and maintenance of adequate Vitamin D levels are essential for pediatric populations, particularly in the context of chronic deficiencies.

Comments: Long-Term Vitamin D Deficiency from Literature:

Prolonged Vit D deficiency impairs bone mineralization, leading to increased bone resorption and a higher risk of fractures. Adequate management of this deficiency is therefore vital for overall health and well-being, and requires ongoing supplementation, dietary modifications, and possibly lifestyle interventions to ensure sufficient sunlight exposure. Continual follow-up is necessary to prevent recurrence, especially in at-risk populations.