Congenital biotinidase deficiency – MRI findings in two cases

oleh: Rahul S Ranjan, Sunil Taneja, Anil Singh, Vikas Gupta

Format: Article
Diterbitkan: Thieme Medical and Scientific Publishers Pvt. Ltd. 2019-01-01

Deskripsi

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.