A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy
10.12376/j.issn.2097-0501.2022.02.014
- VernacularTitle:一例白质脑病伴胼胝体显著萎缩的青年女性
- Author:
Yuhui SHA
1
,
2
;
Junyi ZHANG
1
,
2
;
Jun NI
1
,
2
,
3
Author Information
1. Department of Neurology, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.
3. Peking Union Medical College, Beijing 100730, China.State Key laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Publication Type:Journal Article
- Keywords:
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia;
magnetic resonance imaging;
gene mutation;
colony stimulating factor-1 receptor
- From:
JOURNAL OF RARE DISEASES
2022;1(2):196-198
- CountryChina
- Language:Chinese
-
Abstract:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations include dementia, apraxia, behavioral changes, pyramidal and extrapyramidal signs. Varying clinical manifestations have led to misdiagnoses. Magnetic resonance imaging (MRI) typically reveals white matter changes with T2-Flair/DWI hyperintensity and atrophy especially for thinning of the corpus callosum. Here, we report a young woman experiencing hypomnesia for 2 years with lower extremities weakness and rigidity for 1 month. Considering the evidence of clinical manifestations, imaging and genetic test, this patient was diagnosed with ALSP.
