Effect of duration of sodium valproate therapy on bone mineral density and vitamin D levels.

OBJECTIVE: This study aimed to evaluate the impact of prolonged sodium valproate use on bone mineral density (BMD) and Vitamin D levels in pediatric epilepsy patients. METHODS: In a cross-sectional study conducted at the Epilepsy Clinic of Niloufer Hospital, Hyderabad, India, 50 pediatric patients (aged 4-10 years) were recruited. The cohort comprised 30 epilepsy patients on sodium valproate treatment (cases) and 20 healthy siblings without epilepsy or valproate use (controls). BMD was assessed using dual-energy X-ray absorptiometry to measure height-adjusted total body less head Z-scores (TBLH Z-scores), and serum 25-hydroxyvitamin D levels were measured. Statistical analysis included independent samples t-tests, Mann-Whitney U tests, and Pearson correlation, with a preliminary power analysis ensuring adequate sample size. RESULTS: Cases exhibited significantly lower BMD TBLH Z-scores (Mean = -1.543) compared to controls (Mean = 0.515, p <.001) and reduced Vitamin D levels (Mean = 9.17 for cases vs. 27.80 for controls, p <.001). A negative correlation was observed between the duration of sodium valproate use and both BMD Z-scores (r = -0.626, p <.001) and Vitamin D levels (r = -0.707, p <.001). CONCLUSIONS: The findings suggest a significant negative impact of prolonged sodium valproate use on both bone density and Vitamin D levels in pediatric patients. These results underscore the importance of monitoring and managing bone health in children receiving long-term sodium valproate therapy.

Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings.

Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins. There were no skin and hair changes. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes. Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified. Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.