Congenital biotinidase deficiency & #8211; MRI findings in two cases
Rahul S Ranjan, Sunil Taneja, Anil Singh, Vikas GuptaIndian Journal of Radiology and Imaging 2019 29(1):99-103
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.
Source: Indian Journal of Radiology and Imaging - Category: Radiology Authors: Rahul S Ranjan Sunil Taneja Anil Singh Vikas Gupta Source Type: research