两名成年 L-2-羟戊二酸尿症患者的帕金森病和铁沉积。

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

机构信息

Neurology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.

出版信息

Parkinsonism Relat Disord. 2021 May;86:45-47. doi: 10.1016/j.parkreldis.2021.03.025. Epub 2021 Apr 1.

DOI:10.1016/j.parkreldis.2021.03.025

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.

摘要

L-2-羟戊二酸尿症（L2HGA）是一种罕见的儿童期发病的有机酸尿症，具有特征性的临床（小脑共济失调）和神经影像学（皮质下白质营养不良）特征。这种情况下的运动障碍通常是多动型的。本文报告了两例成年兄弟姐妹最近被诊断为 L2HGA 的病例，表现为多巴胺反应性帕金森病和 MRI 铁沉积。