Analysis of clinical and neuroimaging features in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids / 中华神经科杂志

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.