Rare diseases · Sign or symptom
Periventricular leukomalacia
HP:0006970
What it means
Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.
Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter.
Rare diseases that can present with this17
Sometimes5–29%
15- Adams-Oliver syndrome
- Argininosuccinic aciduria
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal recessive spastic paraplegia type 54
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Cerebellar-facial-dental syndrome
- CLCN4-related X-linked intellectual disability syndrome
- CNTNAP2-related developmental and epileptic encephalopathy
and 7 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: PVL
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.