SLC25A19 Mutation-Related Bilateral Striatal Necrosis and Limbic System Involvement: A Case Report and Review of the Literature

Abstract

Abstract Thiamine pyrophosphate is an activated form of thiamin and primary cofactor for a number of enzyme complexes. Several disorders have been identified so far, which are caused by abnormalities in thiamine transport and metabolism. Biotin–thiamine-responsive basal ganglia disease caused by SLC19A3 mutation is the most commonly encountered disorder in the literature. Progressive polyneuropathy with bilateral striatal necrosis is a rarer entity associated with SLC25A19 mutation and eight cases have been defined in the literature so far. The SLC25A19 differs from SLC19A3 by causing progressive neuropathy if not treated and lifelong thiamine replacement can slow progression of polyneuropathy. Here, we aimed to present a patient who presented with acute encephalopathy attacks triggered by infection and had bilateral strial necrosis and limbic system involvement in cerebral MR imaging, SLC25A19 gene mutation in the genetic testing and neuropathy development during follow-up and to review patients with SLC25A19-related bilateral striatal necrosis in the literature.