Parkinsonism And Iron Deposition In Two Adult Patients With L-2-Hydroxiglutaric Aciduria

Maria João Malaquias,Diogo Costa,Eduarda Pinto,Gonçalo Videira,Jorge Oliveira,João Parente Freixo,Laura Vilarinho,Marina Magalhães

PARKINSONISM & RELATED DISORDERS（2021）

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摘要

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.

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关键词

L-2-hydroxiglutaric aciduria, Parkinsonism, Iron deposition, Atypical parkinsonism, Inborn error of metabolism

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