Features of the disease may include but are not limited to:
- Early hypotonia, evolving to hypertonia as the disease progresses.
- Seizure onset in the first year of life (febrile seizures, infantile spasms, focal seizures, and myoclonic seizures).
- Subsequent progressive developmental regression.
- Recurrent aspiration requiring enteral feeding.
- Brain MRI – cerebral atrophy; delayed myelination; hypoplasia of the corpus callosum.
- Brain CT – punctate calcification of cerebral white matter.