1.Familial rare cases of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) misdiagnosed as multiple sclerosis
Uurtsaikh G ; Lkhagvasuren D ; Lkhamtsoo N
Mongolian Journal of Health Sciences 2025;90(6):237-243
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.
2.Risk factors profile for cardioembolic stroke: A case-control study
Uurtsaikh G ; Batmyagmar K ; Dosjan E ; Saruul Ts ; Ariyasuren L ; Nandintsetseg B ; Baasanjav N ; Lkhamtsoo N
Mongolian Medical Sciences 2021;196(2):13-20
Introduction:
In Mongolia, data on the etiology and risk factors of cardioembolic stroke (CES) is scarce and few
clinical studies have been performed to date. Timely identification and control of cardiovascular risk
factors are priority objectives for adequate primary and secondary prevention of CES.
Goal:
The goal of this study was to describe risk factors for CES in our setting.
Results:
The case-control study enrolled a total of 525 subjects. CES was detected in 63 (35.7%) out of
176 (33.5%) ischemic stroke patients with a predominance in age group of 60-69 and men (33%).
The main risk factor of CES was non-valvular atrial fibrillation (AF). AF especially paroxysmal AF
increased the risk of CES by 4.6 times (p=<0.0001, OR 4.6, 95% CI 1.4-44.6). The second main
cerebrovascular risk factors were hypertension and dyslipidemia.
Conclusion
CES accounted for 1/3 of ischemic stroke. The commonest underlying medical conditions were non-valvular atrial fibrillation, hypertension, dyslipidemia, alcohol consumption and obesity. Hence, all
patients with hypertension and non-valvular AF should be meticulously screened for prevention of
CES.
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