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Congenital neuronal ceroid lipofuscinosis

MedGen UID:
351189
Concept ID:
C1864670
Disease or Syndrome
Synonym: Neuronal Ceroid Lipofuscinosis, Congenital
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).
 
Monarch Initiative: MONDO:0850001
OMIM®: 610127
Orphanet: ORPHA168486

Definition

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital neuronal ceroid lipofuscinosis

Recent clinical studies

Etiology

Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T
Birth Defects Res 2021 Nov;113(18):1324-1332. Epub 2021 Sep 7 doi: 10.1002/bdr2.1950. PMID: 34491000
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S
Neuropediatrics 2018 Apr;49(2):150-153. Epub 2017 Dec 28 doi: 10.1055/s-0037-1613681. PMID: 29284168

Diagnosis

Tripathi S, Jain S, Kumar M
Indian Pediatr 2022 Sep 15;59(9):726-727. PMID: 36101955
Chartier S, Boutaud L, Le Guillou E, Alby C, Billon C, Millischer AE, Caillaud C, Galmiche L, Mechler C, Sonigo P, Boddaert N, Lyonnet S, Rondeau S, Bole-Feysot C, Masson C, Ville Y, Roth P, Desguerre I, Encha-Razavi F, Attie-Bitach T
Birth Defects Res 2021 Nov;113(18):1324-1332. Epub 2021 Sep 7 doi: 10.1002/bdr2.1950. PMID: 34491000
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S
Neuropediatrics 2018 Apr;49(2):150-153. Epub 2017 Dec 28 doi: 10.1055/s-0037-1613681. PMID: 29284168
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177
Barohn RJ, Dowd DC, Kagan-Hallet KS
Pediatr Neurol 1992 Jan-Feb;8(1):54-9. doi: 10.1016/0887-8994(92)90054-3. PMID: 1558577

Prognosis

Shevtsova Z, Garrido M, Weishaupt J, Saftig P, Bähr M, Lühder F, Kügler S
Am J Pathol 2010 Jul;177(1):271-9. Epub 2010 May 20 doi: 10.2353/ajpath.2010.091267. PMID: 20489146Free PMC Article
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177

Clinical prediction guides

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J
Brain 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2 doi: 10.1093/brain/awl107. PMID: 16670177
Barohn RJ, Dowd DC, Kagan-Hallet KS
Pediatr Neurol 1992 Jan-Feb;8(1):54-9. doi: 10.1016/0887-8994(92)90054-3. PMID: 1558577

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