Familial rare cases of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) misdiagnosed as multiple sclerosis
- VernacularTitle:Тархмал хатуурал өвчтэй андуурагдсан удамшлын шалтгаант бөмбөлгөн аксон ба нөсөөжсөн глий бүхий насанд хүрэгсдэд тохиолдох лейкоэнцефалопатийн ховор тохиолдлууд
- Author:
Uurtsaikh G
1
;
Lkhagvasuren D
2
;
Lkhamtsoo N
3
Author Information
1. Intermed Hospital
2. Med Trauma Hospital
3. Neurophysiologу Center, State Third Central Hospital
- Publication Type:Case Reports
- Keywords:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), White matter, Magnetic resonance imaging.
- From:
Mongolian Journal of Health Sciences
2025;90(6):237-243
- CountryMongolia
- Language:Mongolian
-
Abstract:
Background:Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative
disease characterized by cerebral white matter abnormalities, which leads to progressive cognitive and motor
dysfunction that usually presents in a middle-age. We present the pedigree, clinical, and imaging findings of familial
cases with similar clinical features suggestive of progressive multiple sclerosis. Among our cases, two had died and the
remaining one case is still alive, but with clinical symptoms getting worse, such as unable to verbally express themselves,
unable to take care of themselves, worsening social relations and work abilities.
Conclusion:Because the clinical features and neuroimaging findings of inflammatory and neurodegenerative disorders of
the nervous system often overlap, the definitive diagnostic test for ALSP (Adult-onset Leukoencephalopathy with Axonal
Spheroids and Pigmented Glia) is genetic testing to identify CSF1R gene mutations. Although genetic testing is currently
unavailable, it is advisable in clinical practice to apply diagnostic criteria and pay close attention to family history and
characteristic neuroimaging findings when evaluating patients with progressive motor, cognitive, and language decline in
order to suspect this condition.
- Full text:2025121016413650447Тархмал хатуурал өвчтэй андуурагдсан удамшлын шалтгаант бөмбөлгөн аксон ба нөсөөжсөн глий бүхий насанд хүрэгсдэд тохиолдох лейкоэнцефалопатийн ховор тохиолдлууд.pdf
