遗传性锰中毒：“鸡步”步态及典型神经影像学特征。
Inherited manganism: the "cock-walk" gait and typical neuroimaging features.
作者信息
Avelino Marcela Amaral, Fusão Eduardo Ferracioli, Pedroso José Luiz, Arita Juliana Harumi, Ribeiro Reinaldo Teixeira, Pinho Ricardo Silva, Tuschl Karin, Barsottini Orlando G P, Masruha Marcelo Rodrigues
机构信息
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
出版信息
J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.
Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder with characteristic magnetic resonance images of Mn accumulation in the basal ganglia. This letter highlights the neurological manifestations and neuroimaging features of inherited manganism (IMn), an unusual and treatable inborn error of Mn homeostasis. Early-onset dystonia with "cock-walk" gait and hyperintense signal in basal ganglia, associated to polycythemia, chronic liver disease and hypermanganesemia, promptly suggest IMn, and a genetic evaluation should be performed.
锰（Mn）中毒会引发锥体外系帕金森氏型运动障碍，其特征是基底神经节出现锰蓄积的磁共振成像。本文强调了遗传性锰中毒（IMn）的神经学表现和神经影像学特征，这是一种罕见但可治疗的锰稳态先天性代谢缺陷。早发性肌张力障碍伴“公鸡步态”以及基底神经节高信号，同时伴有红细胞增多症、慢性肝病和高锰血症，这些表现强烈提示IMn，应进行基因评估。
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