Congenital biotinidase deficiency – MRI findings in two cases

Abstract

Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature.

Keywords

• biotinidase deficiency
• developmental delay
• neurometabolic disorder
• seizures