LEUCOENCEPHALOPATHY wITH BRAINSTEM AND SPINAL CORD INvOLvEMENT AND HIGH LACTATE AT MR-SPECTROSCOPY. CASE REPORT
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) - a hereditary disorder of the nervous system, one of the group of slowly progressive leukoencephalopathy characterized by cerebellar, pyramidal disorders, disorders involving the posterior columns of spinal cord and highly specific changes in MRI and magnetic resonance spectroscopy of the brain and spinal cord. The article reviews the literature on the history of the description of the disease, its genetic basis, clinical features and diagnostic criteria. The article presents a case of a 5-year old boy. Because of the extreme rarity of this disease it is a description of particular interest. The uniqueness of the case in the discrepancy between gross changes revealed by magnetic resonance imaging of the brain and asymptomatic course.