遗传性弥漫性脑白质病变合并轴索球样变的磁共振特征附2例报告

目的探讨遗传性弥漫性脑白质病变合并球状轴索(HDLS)的磁共振特点,以加深对该病的理解和认识。方法报道2例确诊为集落刺激因子1受体基因突变的HDLS患者的临床诊疗经过,结合文献对其磁共振不同序列的影像学特征进行讨论及分析。结果2例均为青年,慢性起病,亚急性进展,临床表现为体重减轻,口齿不清,反应迟钝,近记忆力减退及肢体运动功能障碍。头颅MRI表现为双侧侧脑室旁、半卵圆中心对称性白质病变、DWI显示弥散受限,MRS提示病变区域NAA峰减低,Cho峰增高,2例均有不同程度脑萎缩,以顶叶及胼胝体体部较明显。结论HDLS为罕见疾病,临床表现多样,容易误诊,双侧侧脑室体旁、半卵圆中心区多发持续性DWI高信号伴有Cho峰增高为本病较特异性的影像学表现,有助于HDLS的早期诊断。

The MR Features of Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids(Attach Two Cases Report)

Objective To explore the MR imaging features of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids(HDLS)in order to enhance its recognition.Methods Two cases of HDLS caused by mutations in the colony-stimulating factor 1 receptor(CSF1 R)gene were retrospectively analyzed and the literature was reviewed.The clinical manifestations,imaging features and diagnoses were discussed.Results These two young patients with chronic onset and subacute progression,presented with weight loss,nonfluent aphasia,affective memory impairment,and motor dysfunction.MRI revealed widespread white-matter lesions of patchy or confluent pattern especially in the periventricular white matter and centrum semiovale regions,with brain atrophy predominantly in the parietal lobe and the body of corpus callosum.DWI sequence showed obvious diffusion restriction within WML.MR Spectroscopy showed increased level of Cho while NAA was decreased.Conclusion The multiple patchy high signal with persistence in periventricular white matter and centrum semiovale of DWI associated with increased level of Cho might be helpful for the early diagnosis of HDLS.