Familial infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis
Definition
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.
Also known as familial IBSN, familial infantile striatonigral degeneration, familial infantile striatonigral necrosis, hereditary infantile bilateral striatal necrosis — per MONDO