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Start free with EleplanFamilial infantile bilateral striatal necrosis
ORPHA:225154Disease
Also called Familial IBSN · Familial infantile striatonigral degeneration · Familial infantile striatonigral necrosis
What it is
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- 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%
23- Abnormality of speech or vocalization
- Ataxia
- Atrophy/Degeneration involving the caudate nucleus
- Babinski sign
- Basal ganglia gliosis
- Choreoathetosis
- Delayed speech and language development
- Developmental regression
- Dysarthria
- Dysphagia
- Dystonia
- Failure to thrive
- Floppy infant
- Gait ataxia
- Gait disturbance
- Horizontal pendular nystagmus
- Hyperreflexia
- Intellectual disability, mild
- Neurodevelopmental delay
- Optic atrophy
- Spasticity
- Spastic tetraparesis
- Tetraparesis
Sometimes5–29%
13- Astrocytosis
- Basal ganglia cysts
- Cogwheel rigidity
- Frequent falls
- Gastroesophageal reflux
- Hypertonia
- Loss of ambulation
- Lower limb muscle weakness
and 5 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.
Genes
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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