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Hallervorden-Spatz病(HSD)是由于铁代谢障碍导致Fe3+在苍白球、黑质、红核等部位内沉积所引起的一种罕见中枢神经系统变性病,具有很强的临床和遗传异质性。病理特异性的表现为含铁色素聚集,神经轴索肿胀,神经元脱失。临床表现以锥体外系受累为主,以姿势和步态异常、肌张力增高和不自主运动为起始症状,常见舞蹈、手足徐动或震颤;晚期出现构音、吞咽困难、锥体束征和智能障碍。根据临床表现的不同可以分为早发型和晚发型两种类型。头颅MRIT2加权像可见苍白球和黑质呈低信号,并在双侧苍白球前内侧低信号的背景上对称出现高信号,即“虎眼征”。目前尚无明确的生化指标可以帮助诊断该病,脑MRIT2加权像出现“虎眼征”对HSD的生前诊断具有重要意义。
Hallervorden-Spatz disease (HSD) is a rare central nervous system degenerative disease caused by the deposition of Fe3 + in the globus pallidus, substantia nigra and red nucleus due to iron metabolism disorder. It has strong clinical and genetic heterogeneity. Pathological manifestations of iron pigment aggregation, axonal swelling, neuronal loss. Clinical manifestations of extrapyramidal involvement mainly to posture and gait abnormalities, increased muscle tone and involuntary movements as the initial symptoms, common dance, hand or foot Xu move or tremor; Late onset of dysarthria, dysphagia, pyramidal tract signs And mental retardation. According to the different clinical manifestations can be divided into early-onset and late-onset two types. Head MRIT2 weighted image shows globus pallidus and substantia nigra showed low signal, and in the bilateral globus pallidus on the background of low signal symmetry high signal, that is, “tiger eye levy.” There is no clear biochemical indicators can help diagnose the disease, brain MRIT2 weighted image “tiger eye syndrome ” is of great significance for the diagnosis of HSD.