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Periventricular pseudocyst

MedGen UID:
1814221
•Concept ID:
C5676647
•
Anatomical Abnormality
HPO: HP:0025728

Definition

Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeriventricular pseudocyst

Professional guidelines

PubMed

Prenatal Evaluation, Imaging Features, and Neurodevelopmental Outcome of Prenatally Diagnosed Periventricular Pseudocysts.
Cooper S, Bar-Yosef O, Berkenstadt M, Hoffmann C, Achiron R, Katorza E
AJNR Am J Neuroradiol 2016 Dec;37(12):2382-2388. Epub 2016 Sep 8 doi: 10.3174/ajnr.A4916. PMID: 27609618Free PMC Article
Subependymal pseudocysts: ultrasound diagnosis and findings at follow-up.
Rademaker KJ, De Vries LS, Barth PG
Acta Paediatr 1993 Apr;82(4):394-9. doi: 10.1111/j.1651-2227.1993.tb12705.x. PMID: 8318809

Recent clinical studies

Etiology

Can syndromic macrocephaly be diagnosed in utero?
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344

Diagnosis

Can syndromic macrocephaly be diagnosed in utero?
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A
Mol Genet Metab 2010 May;100(1):65-70. Epub 2010 Feb 10 doi: 10.1016/j.ymgme.2010.02.002. PMID: 20202874

Prognosis

Can syndromic macrocephaly be diagnosed in utero?
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A
Mol Genet Metab 2010 May;100(1):65-70. Epub 2010 Feb 10 doi: 10.1016/j.ymgme.2010.02.002. PMID: 20202874

Clinical prediction guides

Can syndromic macrocephaly be diagnosed in utero?
Malinger G, Lev D, Ben-Sira L, Hoffmann C, Herrera M, Viñals F, Vinkler H, Ginath S, Biran-Gol Y, Kidron D, Lerman-Sagie T
Ultrasound Obstet Gynecol 2011 Jan;37(1):72-81. doi: 10.1002/uog.8799. PMID: 20734344

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