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Progressive cavitating leukoencephalopathy

MedGen UID:
930509
Concept ID:
C4304840
Disease or Syndrome
Synonym: progressive cavitating leukoencephalopathy
SNOMED CT: Progressive cavitating leukoencephalopathy (719267003)
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:0015349
Orphanet: ORPHA139447

Definition

Progressive cavitating leucoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive cavitating leukoencephalopathy

Recent clinical studies

Etiology

Yapici Z, Benbir G, Saltik S, He L, Brown GK, Taylor RW, Dincer A, Naidu S, Yalcinkaya C
Neuropediatrics 2009 Feb;40(1):47-51. Epub 2009 Jul 28 doi: 10.1055/s-0029-1225626. PMID: 19639529

Diagnosis

Liu Z, Zhang L, Ren C, Xu M, Li S, Ban R, Wu Y, Chen L, Sun S, Elstner M, Shimura M, Ogawa-Tominaga M, Murayama K, Shi T, Prokisch H, Fang F
J Med Genet 2022 Apr;59(4):351-357. Epub 2021 Apr 2 doi: 10.1136/jmedgenet-2020-107383. PMID: 33811136Free PMC Article

Prognosis

Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S
Ann Neurol 2005 Dec;58(6):929-38. doi: 10.1002/ana.20671. PMID: 16315274

Clinical prediction guides

Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E
Neurogenetics 2011 Feb;12(1):9-17. Epub 2011 Jan 4 doi: 10.1007/s10048-010-0265-2. PMID: 21203893

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