Analysis of clinical and neuroimaging features in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids
10.3760/cma.j.issn.1006-7876.2018.11.004
- VernacularTitle:遗传性弥漫性脑白质病变合并球状轴索一家系临床和影像学特征分析
- Author:
Yanyan BAI
1
,
2
;
Lu LU
;
Yue CUI
;
Jieying LI
;
Yang LIU
;
Lin LIU
;
Jing DONG
;
Qi WANG
;
Wei QIN
;
Liyong WU
;
Jianping JIA
Author Information
1. 100053北京,首都医科大学宣武医院神经内科
2. 陕西省榆林市第一医院神经内科
- Keywords:
Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids;
Colony stimulating factor 1 receptor gene;
Mutation
- From:
Chinese Journal of Neurology
2018;51(11):877-881
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical and neuroimaging features in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) caused by mutation of the colony stimulating factor 1 receptor gene (CSF1R). Methods The proband and another patient from a HDLS pedigree were assessed respectively through standardized clinical evaluation (medical history inquiry, physical examination),neuropsychology assessment,MRI,genetic sequencing, as well as brain PET imaging with carbon11-labelled Pittsburgh compound-B(11C-PIB). Results A HDLS pedigree with three patients was recruited to this study. Apathy, memory decline, slow behavior were the first symptoms for two of the patients. Being bedridden, urinary incontinence and epilepsy were developed at the later stage. A missense mutation c. 2381T>C(p. I794T) in exon 18 of the CSF1R gene of chromosome 5 was identified in the proband. The brain DWI illustrated multiple patchy high signal in periventricular white matter and centrum semiovale which was characterized by persistence, and the corpus callosum was affected in the early stage. Conclusion The multiple patchy high signal with persistence in periventricular white matter and centrum semiovale of DWI is helpful for the early diagnosis of HDLS.
