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Congenital biotinidase deficiency - MRI findings in two cases
Rahul S Ranjan1, Sunil Taneja2, Anil Singh1
1Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, India.
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.
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