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


METHODS
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.
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Yaqing
Y
Shu
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Ling
L
Long
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Siyuan
S
Liao
Department of Ophthalmology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510630, China.
Jiezheng
J
Yang
Department of Nuclear Medicine, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510630, China.
Jianfang
J
Li
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Wei
W
Qiu
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Yu
Y
Yang
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Jian
J
Bao
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China.
Aiming
A
Wu
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China. huxueqiangqm@aliyun.com.
Xueqiang
X
Hu
Department of Neurology, The Third Affiliated Hospital of Sun Yat-sen University, 600 Tianhe Road, Guangzhou, 510630, China. lzq1828@aliyun.com.
Zhengqi
Z
Lu
D000328:Adult; D001284:Atrophy / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009900:Optic Nerve / Q000000981:diagnostic imaging / Q000473:pathology*; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*; D066127:White Matter / Q000000981:diagnostic imaging / Q000473:pathology
D016186:Receptor, Macrophage Colony-Stimulating Factor
Colony-stimulating factor 1 receptor; Hereditary diffuse leukoencephalopathy with axonal spheroids; Leukoencephalopathy; Peripapillary retinal nerve fiber layer