/leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Rare Disease

MONDO:0012622

Also Known As

LBSLLeukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevationleukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeleukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndromeleukoencephalopathy with brain stem and spinal cord involvement - high lactateleukoencephalopathy with brain stem and spinal cord involvement - lactate elevationleukoencephalopathy with brain stem and spinal cord involvement and lactate elevationleukoencephalopathy with brainstem and spinal cord involvement and lactate elevationmitochondrial aspartyl-tRNA synthetase deficiency

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.