Hypomyelination with atrophy of the basal ganglia and cerebellum
Hypomyelination with atrophy of the basal ganglia and cerebellum
复制标题
髓鞘形成不足伴基底神经节和小脑萎缩
作者：
M. Knaap;T. Linnankivi;A. Paetau;Annette Feigenbaum;K. Wakusawa;K. Haginoya;Wolfgang Köhler;M. Henneke;A. Dinopoulos;P. Grattan;Knut Brockmann;Raphael Schiffmann;S. Blaser
背景与目的：基底节和小脑的髓鞘形成不足伴萎缩是一种新近定义的疾病。只有少数患者被描述。我们报告了另外11例患者和新的MRI结果，并提供了MRI解释的组织病理学证实。方法：回顾性分析患者的临床病史和目前的发现。我们对MRI异常进行了评分。对1例患者进行了组织病理学复查。结果如下：患者的早期精神发育正常或延迟，随后逐渐出现锥体外系运动异常、共济失调和痉挛。心理能力受到严重影响。MRI显示髓鞘形成不足，随访时有进一步髓鞘丢失和可变白色物质萎缩的证据。壳核较小，或更常见的是，没有;尾状核的头部大小减少。相反，丘脑和苍白球保持正常。小脑萎缩无一例外地存在。组织学证实髓鞘缺乏，可能与缺乏沉积和低度进一步损失有关。壳核次全变性。小脑皮质受到影响，特别是颗粒层。结论：基底节和小脑萎缩的髓鞘形成不足是一种具有特征性MRI表现的综合征。组织学证实髓鞘形成不足，髓鞘轻度进一步丢失，壳核次全变性，小脑皮质萎缩。所有已知的患者都是散发的，遗传方式尚不清楚。
Background and objective: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. Only a few patients have been described. We report on 11 additional patients and new MRI findings and provide histopathologic confirmation of the MRI interpretation. Methods: We reviewed the patients' clinical history and present findings. We scored the MRI abnormalities. The histopathology of one patient was re-examined. Results: The patients' early psychomotor development was normal or delayed, followed by increasing extrapyramidal movement abnormalities, ataxia, and spasticity. Mental capacities were variably affected. MRI showed hypomyelination with, on follow-up, evidence of further myelin loss and variable white matter atrophy. The putamen was small or, more often, absent; the head of the caudate nucleus was decreased in size. In contrast, the thalamus and globus pallidus remained normal. Cerebellar atrophy was invariably present. Histopathology confirmed the myelin deficiency, probably related to both lack of deposition and low-grade further loss. The degeneration of putamen was subtotal. The cerebellar cortex was affected, particularly the granular layer. Conclusion: Hypomyelination with atrophy of the basal ganglia and cerebellum is a syndrome diagnosed by distinctive MRI findings. Histopathology confirms hypomyelination, low-grade further myelin loss, subtotal degeneration of the putamen, and cerebellar cortical atrophy. All known patients are sporadic, and the mode of inheritance is unclear.