non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
ORPHA: 436271
Overview
human disease
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 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy, sourced from HPO and Orphanet clinical annotations.
Progressive leukoencephalopathyProgressive peripheral neuropathyProteinuriaRenal tubular dysfunctionPtosisPigmentary retinopathyOptic atrophyDelayed speech and language developmentIntellectual disabilitySeizureAtaxiaExcessive daytime somnolenceGlobal developmental delayMotor delayGait disturbanceGeneralized hypotoniaDecreased liver functionFailure to thriveHypertrophic cardiomyopathyAnemiaRenal Fanconi syndromeHepatomegalyDevelopmental regressionIncreased CSF lactateRespiratory insufficiency due to muscle weaknessExertional dyspneaGlycosuriaHyperphosphaturiaLactic acidosisGeneralized muscle weaknessAminoaciduriaDiffuse hepatic steatosisAbnormal pyramidal signBilateral sensorineural hearing impairmentFatigable weakness of swallowing musclesSkeletal muscle steatosisSpastic tetraparesisVomiting
Classification & Codes
Orphanet Code
ORPHA:436271non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
| Orphanet | ORPHA:436271 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO