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Indian J Radiol Imaging. 2019 Jan-Mar;29(1):99-103. doi: 10.4103/ijri.IJRI_159_18.

Congenital biotinidase deficiency - MRI findings in two cases.

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Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, India.
Ex. Consultant at G. S. V. M. Medical College, Kanpur, Uttar Pradesh, India.
Consultant Radiologist, Vikas Diagnostics, Kanpur, Uttar Pradesh, India.


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.


Biotinidase deficiency; developmental delay; neurometabolic disorder; seizures

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