Literature DB >> 11008260

Early fatal pontocerebellar hypoplasia in premature twin sisters.

V Chaves-Vischer1, G P Pizzolato, S Hanquinet, A Maret, A Bottani, C A Haenggeli.   

Abstract

We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure. Copyright 2000 European Paediatric Neurology Society.

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Year:  2000        PMID： 11008260     DOI： 10.1053/ejpn.2000.0295

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


  9 in total

1.  Disruption of cerebellar development: potential complication of extreme prematurity.

Authors:  Agnes Messerschmidt; Peter C Brugger; Eugen Boltshauser; Gerlinde Zoder; Walter Sterniste; Robert Birnbacher; Daniela Prayer
Journal:  AJNR Am J Neuroradiol       Date:  2005-08       Impact factor: 3.825

2.  TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Authors:  Yasmin Namavar; David Chitayat; Peter G Barth; Fred van Ruissen; Marit B de Wissel; Bwee Tien Poll-The; Rachel Silver; Frank Baas
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

3.  Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Authors:  Lydie Burglen; Sandra Chantot-Bastaraud; Catherine Garel; Mathieu Milh; Renaud Touraine; Ginevra Zanni; Florence Petit; Alexandra Afenjar; Cyril Goizet; Sabina Barresi; Aurélie Coussement; Christine Ioos; Leila Lazaro; Sylvie Joriot; Isabelle Desguerre; Didier Lacombe; Vincent des Portes; Enrico Bertini; Jean-Pierre Siffroi; Thierry Billette de Villemeur; Diana Rodriguez
Journal:  Orphanet J Rare Dis       Date:  2012-03-27       Impact factor: 4.123

4.  Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?

Authors:  John M Graham; Andrew H Spencer; Inessa Grinberg; Charles E Niesen; Lawrence D Platt; Marcel Maya; Yasmin Namavar; Frank Baas; William B Dobyns
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

Review 5.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

6.  MRI measurements of the pons and cerebellum in children born preterm; associations with the severity of periventricular leukomalacia and perinatal risk factors.

Authors:  M I Argyropoulou; V Xydis; A Drougia; P I Argyropoulou; M Tzoufi; A Bassounas; S Andronikou; S C Efremidis
Journal:  Neuroradiology       Date:  2003-08-27       Impact factor: 2.804

Review 7.  Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Bwee Tien Poll-The; Frank Baas
Journal:  Orphanet J Rare Dis       Date:  2011-07-12       Impact factor: 4.123

8.  Pontocerebellar hypoplasia type 2: a neuropathological update.

Authors:  Peter G Barth; Eleonora Aronica; Linda de Vries; Peter G J Nikkels; Wiep Scheper; Jeroen J Hoozemans; Bwe-Tien Poll-The; Dirk Troost
Journal:  Acta Neuropathol       Date:  2007-07-20       Impact factor: 17.088

9.  A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Authors:  Afrooz Sepahvand; Ehsan Razmara; Fatemeh Bitarafan; Mohammad Galehdari; Ali Reza Tavasoli; Navid Almadani; Masoud Garshasbi
Journal:  Mol Genet Genomic Med       Date:  2020-07-22       Impact factor: 2.183
  9 in total

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