Familial infantile bilateral striatal necrosis
ORPHA:225154· ICD-10 G23.2
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal