familial infantile bilateral striatal necrosis
ORPHA: 225154
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 familial infantile bilateral striatal necrosis, sourced from HPO and Orphanet clinical annotations.
TetraparesisDevelopmental regressionBabinski signBasal ganglia gliosisAtrophy/Degeneration involving the caudate nucleusHorizontal pendular nystagmusFloppy infantNeurodevelopmental delayHypertoniaMyoclonusGastroesophageal refluxRigidityFrequent fallsCogwheel rigidityAstrocytosisLoss of ambulationUpper limb muscle weaknessBasal ganglia cystsLower limb muscle weaknessUndetectable light- and dark-adapted electroretinogramSmall basal gangliaOptic atrophyDelayed speech and language developmentAtaxiaMild intellectual disabilitySpasticityDysarthriaChoreoathetosisSpastic tetraparesisGait disturbanceDystoniaHyperreflexiaFailure to thriveDysphagiaGait ataxiaAbnormal speech pattern
Classification & Codes
Orphanet Code
ORPHA:225154familial infantile bilateral striatal necrosis
| Orphanet | ORPHA:225154 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO