Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria

Abstract

L-2-hydroxiglutaric aciduria (L2HGA) is a rare, childhood-onset, organic aciduria, with characteristic clinical (cerebellar ataxia) and neuroimaging (subcortical leukodystrophy) features. Movement disorders in this condition are usually of hyperkinetic type. Herein is reported the case of two adult siblings with recent L2HGA diagnosis, presenting with dopa-responsive parkinsonism and MRI iron deposition.

Keywords: Atypical parkinsonism; Inborn error of metabolism; Iron deposition; L-2-hydroxiglutaric aciduria; Parkinsonism.