Maya Dattatraya Bhat MD, Presenter: Nothing to Disclose

Chandrajit Prasad MBBS, MD, Abstract Co-Author: Nothing to Disclose

Parayil Sankaran Bindu MBBS, MD, Abstract Co-Author: Nothing to Disclose

Biotinidase deficiency is an inborn error of metabolism. Many of the clinical and neuroradiological features are reversible with early detection and simple treatment. We report novel MRI features in two patients with profound biotinidase deficiency that have not been reported previously on imaging  

Two patients aged 8 months and 15 years respectively presented with features suggestive of biotinidase deficiency. Plasma levels of enzymes were low in both patients. MRI brain in first case revealed T2 and FLAIR hyperintensities in both hippocampi(H), parahippocampal gyri(PHG), posterior limbs of internal capsules and corticospinal tract.Diffusion restriction was seen in the above mentioned areas along with brachium of inferior colliculus(IC),central tegmental tracts (CTT), middle cerebellar peduncles and cerebellar grey and white matter. Brain imaging findings of hyperintensities of H and PHG have not been reported. Diffusion restriction of CTT, crus cerebri, cerebellum, H, PHG and IC is a novel observation. MRI spine in second case revealed bilateral symmetrical involvement of anterior, lateral and postetior columns.Selective tract involvement has never been described. Both the patients were treated with oral biotin supplements and recovered considerably.This report emphasizes the importance of imaging in metabolic disorders.  

http://abstract.rsna.org/uploads/2014/14017174/14017174_fwya.pdf

Bhat, M, Prasad, C, Bindu, P, Novel Imaging Findings in Two Cases of Biotinidase Deficiency- A Treatable Metabolic Disorder .  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14017174.html