An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description
Date
2014
Authors
Grechanina, Elena
Zdubskaya, Elena
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
As a rule, the disease manifests in the age of 3-15 years. Cerebellar ataxia, spastic tetraparesis and cognitive impairment develop. Before the onset of the disease, psychomotor and speech development corresponds to age, movement disorders develop further, patients become disabled by the second to fourth decade of life. In our case, the disease manifested in the heterozygous carrier by one year of life and was accompanied by obesity.
Description
Keywords
leukoencephalopathy, LBSL, lactate elevation, chromosome 1
Citation
Grechanina E. Y. An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description / E. Y. Grechanina, E. P. Zdubskaya // Journal of Inherited Metabolic Disease. — 2014. — Vol. 37, suppl. 1 : Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2–5 September, 2014 : abstracts. — P. 114.