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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.

Author information

1
Department of Radiodiagnosis, Rama Medical College, Mandhana, Kanpur, Uttar Pradesh, India.
2
Ex. Consultant at G. S. V. M. Medical College, Kanpur, Uttar Pradesh, India.
3
Consultant Radiologist, Vikas Diagnostics, 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.

KEYWORDS:

Biotinidase deficiency; developmental delay; neurometabolic disorder; seizures

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