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Familial infantile bilateral striatal necrosis(FBSN)

MedGen UID:
1672478
•Concept ID:
C4087174
•
Disease or Syndrome
Synonyms: BILATERAL STRIATAL NECROSIS, INFANTILE; FBSN; Striatal degeneration familial
SNOMED CT: Familial infantile bilateral striatal necrosis (1208478005); Familial infantile striatonigral necrosis (1208478005); Familial infantile striatonigral degeneration (1208478005); Familial IBSN (infantile bilateral striatal necrosis) (1208478005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Mitochondrial inheritance
MedGen UID:
165802
•Concept ID:
C0887941
•
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
 
Gene (location): NUP62 (19q13.33)
 
Monarch Initiative: MONDO:0010080
OMIM®: 271930
Orphanet: ORPHA225154

Definition

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 (see 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). Genetic Heterogeneity of Striatonigral Degeneration Childhood-onset striatonigral degeneration (617054) is caused by mutation in the VAC14 gene (604632) on chromosome 16q22. See also adult-onset autosomal dominant striatal degeneration (ADSD; 609161), caused by mutation in the PDE8B gene (603390) on chromosome 5q13, and early-onset dystonia-37 with striatal lesions (DYT37; 620427), caused by mutation in the NUP54 gene (607607) on chromosome 4q21. [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Dysphagia
MedGen UID:
41440
•Concept ID:
C0011168
•
Disease or Syndrome
Difficulty in swallowing.
See: Feature record | Search on this feature
Dystonic disorder
MedGen UID:
3940
•Concept ID:
C0013421
•
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
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Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
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Choreoathetosis
MedGen UID:
39313
•Concept ID:
C0085583
•
Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
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Developmental regression
MedGen UID:
324613
•Concept ID:
C1836830
•
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
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Developmental stagnation
MedGen UID:
341348
•Concept ID:
C1848980
•
Finding
A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.
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Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Optic atrophy
MedGen UID:
18180
•Concept ID:
C0029124
•
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
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Pendular nystagmus
MedGen UID:
78770
•Concept ID:
C0271388
•
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis.
Ganelin Cohen E, Bessler H, Djaldetti M, Straussberg R
Neuroimmunomodulation 2017;24(4-5):276-281. Epub 2018 Mar 6 doi: 10.1159/000486861. PMID: 29510394

Diagnosis

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis.
Ganelin Cohen E, Bessler H, Djaldetti M, Straussberg R
Neuroimmunomodulation 2017;24(4-5):276-281. Epub 2018 Mar 6 doi: 10.1159/000486861. PMID: 29510394

Therapy

Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J
Neurology 2002 Oct 8;59(7):983-9. doi: 10.1212/wnl.59.7.983. PMID: 12374138

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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