Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis.
作者： Evelien Zoons , Tom J. de Koning , Nico G. G. M. Abeling , Marina A. J. Tijssen
DOI: 10.1007/8904_2011_78
关键词: Lysosomal storage disease 、 Neurodegeneration with brain iron accumulation 、 Adult case 、 Medicine 、 Spinocerebellar ataxia 、 α mannosidosis 、 Pathology 、 Basal ganglia 、 Movement disorders 、 Neuroscience
摘要: Case: A 34-year-old woman was referred to our hospital with progressive movement disorders and neurodegeneration brain iron accumulation enlargement of the frontal diploe on MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder.
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