An early manifestation of LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation) syndrom, case description

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.