Familial infantile bilateral striatal necrosis

Orpha code: 225154OMIM code: 500003

Definition

Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.

Disease data
Classification

Disease

Synonyms
Familial IBSN
Rodzinna dziecięca martwica nigrostriatialna
Rodzinna IBSN
Rodzinne dziecięce zwyrodnienie nigrostriatialne
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
ORPHA code
225154
OMIM code
500003
ICD10 code
G23.2
ICD11 code
LD90.Y

No additional description.

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