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Familial infantile bilateral striatal necrosis

rare

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.

Identifiers
MONDO:0010080 OMIM:271930Orphanet:225154
Causal genes
NUP62
Part of
Infantile bilateral striatal necrosisStriatonigral degenerationSyndromic disease
Also known as
familial bilateral striatal necrosis · familial IBSN · familial infantile striatonigral degeneration · familial infantile striatonigral necrosis · FBSN

Subtypes

All diseases Rare only
Disease Subtypes
Striatonigral degeneration, infantile, mitochondrial

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