NIH Rare Diseases

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1576Disease definitionInfantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms).EpidemiologyThe prevalence of the sporadic form has been estimated at 1-9/1,000,000 and prevalence of the familial form has been estimated at less than 1/1,000,000.Clinical descriptionThe age of onset of familial IBSN varies between 7 months and 15 months, whereas sporadic IBSN can occur any time from the neonatal period through childhood and even in adolescence. 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 familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection.EtiologyAutosomal recessive IBSN is caused by mutation in the NUP62 gene (19q13.33) and mitochondrial IBSN is caused by mutation in the ATP synthase-6 gene (MTATP6).Diagnostic methodsDiagnosis 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 diagnosisDifferential 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.Antenatal diagnosisAntenatal diagnosis and genetic counseling is offered to families of affected patients.Genetic counselingFamilial IBSN can be inherited as an autosomal recessive or mitochondrial disorder.Management and treatmentThere is no standard therapy for familial IBSN. Treatment with oral biotin has been observed to slow disease progress initially. Treatment for the sporadic form is based on treatment of the causal infection.PrognosisPrognosis for the familial form is usually poor with patients progressing to spastic quadriparesis followed by death, usually due to infection. For the sporadic form, prognosis is variable, with either gradual improvement in symptoms and complete recovery, observed after recovery from the infection, or severe neurological sequelae.Visit the Orphanet disease page for more resources. Last updated: 3/25/2010

MalaCards based summary

Striatonigral Degeneration, Infantile, also known as infantile bilateral striatal necrosis, is related to familial infantile bilateral striatal necrosis and sporadic infantile bilateral striatal necrosis, and has symptoms including dystonia, intellectual disability and spasticity. An important gene associated with Striatonigral Degeneration, Infantile is NUP62 (Nucleoporin 62), and among its related pathways/superpathways are RNA transport and Oxidative phosphorylation. Affiliated tissues include globus pallidus, brain and caudate nucleus.

OMIM

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see 500003) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (256000) and certain metabolic disorders, including glutaric acidemia I (231670) and methylmalonic aciduria (251000). See also Aicardi-Goutieres syndrome (225750) (Mito et al., 1986; De Meirleir et al., 1995). (271930)

UniProtKB/Swiss-Prot

Infantile striatonigral degeneration: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation.