Biotinidase deficiency in the second decade with atypical neuroimaging findings

Biotinidase deficiency in the second decade with atypical neuroimaging findings

Blog Article

Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency.Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements.At il barone wine 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins.There were no skin and hair changes.

Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes.Tandem mass spectroscopy click here showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine.There was a low biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified.Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.