Rare diseases · Sign or symptom
Hyperintensity of cerebral white matter on MRI
HP:0030890
What it means
A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
Rare diseases that can present with this34
Very common80–99%
3Common30–79%
22- 4H leukodystrophy
- Adult-onset autosomal dominant leukodystrophy
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 48
- Cerebrotendinous xanthomatosis
- Combined oxidative phosphorylation defect type 39
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Craniofaciofrontodigital syndrome
- Dentatorubral pallidoluysian atrophy
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Isolated focal cortical dysplasia
- Metachromatic leukodystrophy
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- NAD(P)HX epimerase deficiency
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- PYCR2-related microcephaly-progressive leukoencephalopathy
- RARS-related autosomal recessive hypomyelinating leukodystrophy
- S-adenosylhomocysteine hydrolase deficiency
- Schilder disease
Sometimes5–29%
9- ALG2-CDG
- Dihydropyrimidine dehydrogenase deficiency
- Hereditary cerebral amyloid angiopathy
- Northern epilepsy
- Pelizaeus-Merzbacher disease in female carriers
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Pyruvate carboxylase deficiency
- RFT1-CDG
and 1 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: White matter hyperintensity
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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.