Abstract Details

Title Abnormal DWI Signals of Spine in a Sporadic Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia caused by a novel c.1907T>A. Mutation in CSF1R

Topic General Neurology

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 7-023

Objective NA

Background Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an autosomal dominant disease caused by CSF1R gene mutation,with a characteristic of persistent DWI high-signals. A novel c.1907T>A. Mutation in CSF1R was discovered in a patient who was clinically suspected of ALSP with prominent DWI abnormal signals along the whole course of pyramidal tracts .

Design/Methods NA

Results A 31-year-old married man without family history presented with progressive left-side motor dysfunction, cognitive impairment and emotional incontinence such as forced crying and laughing for 2 years. Subsequently, dysphagia and dysarthria, left hemi-spasticity and vision loss occurred. He was noted neutropenia and thrombocytopenia since 8 years old, with bone biopsy in 2018 showing giant cell maturation disorder. Neurological Examination showed cognitive decline(MMSE 22), left facial paralysis and frontal release signs. Bilateral muscle force dropped associated with bilateral pyramidal signs, with left side predominant. No sensory or autonomic dysfunction was present. MR imaging showed characteristic persistent and gradual expanded bilateral T2/FLAIR/DWI white matter hyperintensities predominantly in sub-frontal/parietal lobes, deep white matter and pyramidal tracts. Spine MR showed abnormal signaling and diffusion-restricted lesions in pyramidal tracts in both cervical and thoracic spine with left-side predorminant. Other tests such as CSF analysis, screening of organic acid metabolism, very long chain fatty acids, arylsulphatase, acylphosphatase and autoimmune antibodies were normal. Whole-genome sequencing was performed and showed a novel c.1907T>A. mutation in CSF1R. Combined with the phenotype and gene testing results, diagnosis of ALSP was confirmed.

Conclusions

c.1907T>A. in exon14 of CSF1R is a novel mutation which could cause ALSP and extends the genetic spectrum of ALSP.

Authors/Disclosures
Shanglin Li, MD (Tsinghua University First Hospital) PRESENTER	No disclosure on file
Aldanica Olano	Aldanica Olano has nothing to disclose.
Yi-Cheng Zhu, MD, PhD (Peking Union Medical College Hospital)	Dr. Zhu has nothing to disclose.
	No disclosure on file
Liying Cui, PhD (Peking Union Medical College Hospital)	No disclosure on file

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