Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Definition
This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Also known as LBSL, Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation, leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome — per MONDO