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Familial infantile bilateral striatal necrosis
Disease 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.
ORPHA:225154
Classification level: Disorder- Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant or Autosomal recessive or Mitochondrial inheritance
- Age of onset: Infancy, Neonatal
- ICD-10: G23.2
- ICD-11: LD90.Y
- OMIM: 271930 500003
- UMLS: C4087174
- MeSH: -
- GARD: -
- MedDRA: 10077450
Summary
Epidemiology
The prevalence of familial IBSN has been estimated at less than 1/1,000,000.
Clinical description
The age of onset varies between 7 months and 15 months. Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills, failure to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus. The disease has an insidious onset and a slowly progressive downhill course.
Etiology
Autosomal recessive infantile striatonigral degeneration is caused by mutation in the NUP62 gene (19q13.33) and mitochondrial infantile striatonigral degeneration is caused by mutation in the ATP synthase-6 gene (MTATP6).
Diagnostic methods
Diagnosis is based on clinical observation of choreoathetoid movements of the face, trunk and extremities and evidence of basal ganglia degeneration on CT and MRI images.
Differential diagnosis
Differential diagnoses include Wilson's disease, acute disseminated encephalomyelitis, neurodegeneration with brain iron accumulation, Leigh disease, juvenile Huntington chorea, methylmalonic aciduria, guanidinoacetate methyltransferase deficiency, glutaric acidemia I (see these terms), carbon monoxide intoxication, small vessel arteritis and trauma.
Genetic counseling
Antenatal diagnosis and genetic counseling is offered to families of affected patients.
Management and treatment
There is no standard therapy for familial IBSN. Treatment with oral biotin has been observed to slow disease progress initially.
Prognosis
Prognosis is usually poor with patients progressing to spastic quadriparesis followed by death, usually due to infection.
A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)
Additional information