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BMC Neurology
Published in: BMC Neurology 1/2016

Open Access 01-12-2016 | Case report

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids

Authors: Yaqing Shu, Ling Long, Siyuan Liao, Jiezheng Yang, Jianfang Li, Wei Qiu, Yu Yang, Jian Bao, Aiming Wu, Xueqiang Hu, Zhengqi Lu

Published in: BMC Neurology | Issue 1/2016

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Abstract

Background

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Involvement of the optic nerves in hereditary diffuse leukoencephalopathy is rare.

Case presentation

We report the case of a 30-year-old Chinese woman with HDLS, who carried a heterozygous c.2345 G > A (p.782Arg > His) mutation in exon 18 of CSF1R. She developed a gradual decline in motor ability, as well as cognitive and visual function, over the course of 4 months. Brain T2 fluid-attenuated inversion recovery-weighted magnetic resonance imaging revealed high signal lesions in the bilateral frontoparietal and periventricular deep white matter. Optical coherence tomography showed that the right peripapillary retinal nerve fiber layer was atrophic in the temporal quadrant while the left peripapillary retinal nerve fiber layer was thin in the temporal superior quadrant.

Conclusions

A diagnosis of HDLS should be considered in patients with white matter lesions and optic nerves injury upon magnetic resonance imaging that mimics progressive multiple sclerosis.
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Metadata
Title
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids
Authors
Yaqing Shu
Ling Long
Siyuan Liao
Jiezheng Yang
Jianfang Li
Wei Qiu
Yu Yang
Jian Bao
Aiming Wu
Xueqiang Hu
Zhengqi Lu
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2016
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-016-0694-0

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