Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
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DOI：
10.2169/internalmedicine.52.8879
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发表时间：
2013-01-01
影响因子：
1.2
通讯作者：
Ikeda, Shu-ichi
中科院分区：
文献类型：
--
作者：
Kondo, Yasufumi;Kinoshita, Michiaki;Ikeda, Shu-ichi
我们在此报道一名41岁日本男性患有伴有球样体的遗传性弥漫性脑白质病（HDLS）的病例，该患者在集落刺激因子1受体基因（CSF1R）中携带新生的K793T突变。在接下来的6个月里，他的认知和精神功能逐渐下降。在脑部磁共振成像（MRI）上，胼胝体变薄，压部呈T2加权像和液体衰减反转恢复序列（FLAIR）高信号强度明显，而大脑深部和脑室周围白质病变较轻。我们提出，对于在MRI上表现出胼胝体病变的早老性痴呆患者，即使没有任何明显的家族病史，也应考虑HDLS的诊断。
We herein report the case of a 41-year-old Japanese man with hereditary diffuse leukoencephalopathy with spheroids (HDLS) who carried the de novo K793T mutation in the colony-stimulating factor 1 receptor gene (CSF1R). He showed a gradual decline of his cognitive and mental functions over the following six months. On brain MRI, a thin corpus callosum with T2- and FLAIR-high signal intensity in the splenium was conspicuous, whereas cerebral deep and periventricular white matter lesions were mild. We propose that a diagnosis of HDLS should be considered in patients with presenile dementia presenting with corpus callosum lesions on MRI, even in cases with a lack of any apparent family history.