Biotinidase Deficiency in Children: Clinical Outcomes and Neuroimaging Correlations

Biotinidase Deficiency (BTD) is an autosomal recessive metabolic disorder caused by mutations in the BTD gene, leading to impaired Biotin metabolism and resulting in severe neurological impairments, including seizures and developmental delays. Early diagnosis and treatment are crucial for improving patient outcomes.This study aims to investigate the clinical outcomes and neuroimaging findings in pediatric patients diagnosed with BTD, emphasizing the importance of early detection and multidisciplinary management.

This retrospective review was conducted over seven years, analyzing medical records of five patients diagnosed with BTD based on clinical, radiological, and genetic criteria. Brain MRIs were performed, and genetic analyses confirmed the presence of pathogenic mutations in the BTD gene.

All patients exhibited characteristic clinical symptoms of BTD, including seizures and developmental delays. MRI findings revealed bilateral symmetrical increased signal intensity on T2-weighted images and low signal intensity on T1-weighted images in subcortical white matter. Treatment with Biotin resolved seizures in all cases; however, irreversible complications such as sensorineural hearing loss were noted in three patients. Early initiation of Biotin therapy correlated with better clinical outcomes.

This study highlights the necessity of a multidisciplinary approach to managing BTD, integrating genetic testing, clinical assessments, and neuroimaging. Early diagnosis through newborn screening is vital for improving long-term outcomes in affected children. Future studies should focus on expanding screening initiatives and investigating long-term treatment effects.