leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ORPHA: 137898
Overview
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, sourced from HPO and Orphanet clinical annotations.
Babinski signAbnormal spinal cord dorsal column morphologyDysarthriaGait disturbanceAbnormal cerebellum morphologyTremorProgressive cerebellar ataxiaAbnormal speech patternProgressive spasticityClumsinessUnsteady gaitDistal muscle weaknessUpper motor neuron dysfunctionSpastic ataxiaLoss of ambulationDysmyelinating leukodystrophyHyporeflexiaMental deteriorationMotor delayReduced tendon reflexesSpecific learning disabilityIncreased circulating lactate concentrationImpaired vibration sensation in the lower limbsIncreased CSF lactatePeripheral axonal neuropathyImpaired distal proprioceptionPoor fine motor coordinationLeg muscle stiffnessImpaired visuospatial constructive cognitionHearing impairmentPtosisSlow saccadic eye movementsNystagmusOptic atrophyDiplopiaIntellectual disabilitySeizureHypotoniaPolyneuropathyCerebellar atrophyHypertoniaAbsent speechSlurred speechFlexion contractureCerebral atrophyTruncal ataxiaHypoplasia of the corpus callosumSpastic/hyperactive bladderImpaired pursuit initiation and maintenanceGeneralized limb muscle atrophy
Classification & Codes
Orphanet Code
ORPHA:137898leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
| Orphanet | ORPHA:137898 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO