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Start free with EleplanEarly-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
ORPHA:3240Disease
Also called Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
What it is
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- No data available
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
17- Absent brainstem auditory responses
- Absent speech
- Atopic dermatitis
- Axial hypotonia
- Cerebellar hypoplasia
- Developmental regression
- Diffuse cerebral atrophy
- Gliosis
- Growth delay
- Head titubation
- Hyperreflexia
- Hypochromic microcytic anemia
- Increased circulating ferritin concentration
- Seizure
- Spastic tetraplegia
- Subcortical white matter calcifications
- Vestibular areflexia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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