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 CASE REPORT
Year : 2013  |  Volume : 61  |  Issue : 2  |  Page : 161--163

Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: A case report and literature review


1 Department of Neurology, The First Affiliated Hospital of Jilin University, Changchun, Jilin Province, 130021, P. R. China
2 Department of Radiology, The First Affiliated Hospital of Jilin University, Changchun, Jilin Province, 130021, P. R. China

Correspondence Address:
Jia-Chun Feng
Department of Neurology, The First Affiliated Hospital of Jilin University, Xinmin Street 71, Changchun, Jilin Province, 130021
P. R. China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.111123

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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with an autosomal recessive mode of inheritance. We report a case of rare adult-onset LBSL with typical magnetic resonance imaging (MRI) features. The DARS2 gene mutation analysis has identified a c. 228-20_21delTTinsC (p.R76SfsX5) mutation and a c. 850G > A (p. 284E > K) mutation. With glucocorticosteroid treatment the patient has had improvement in bladder symptoms. This is the first reported adult-onset LBSL case in the Chinese Han population. A review of the literature suggests that brain lactate elevation in adult-onset LBSL is lower than early-onset cases (P < 0.01), and early-onset cases show mild intelligence and cognition decline. These observations suggest that age of onset and brain lactate levels probably influence the prognosis of LBSL.






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