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Start free with EleplanLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
ORPHA:137898Disease
Also called LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
What it is
This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- 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%
15Sometimes5–29%
13- Hyporeflexia
- Impaired distal proprioception
- Impaired vibration sensation in the lower limbs
- Impaired visuospatial constructive cognition
- Increased circulating lactate concentration
- Increased CSF lactate
- Leg muscle stiffness
- Mental deterioration
and 5 more in this range
Rare1–4%
21- Absent speech
- Cerebellar atrophy
- Cerebral atrophy
- Diplopia
- Flexion contracture
- Generalized limb muscle atrophy
- Hearing impairment
- Hypertonia
and 13 more in this range
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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