Literature DB >> 12385458

COACH syndrome associated with multifocal liver tumors.

Gabriele I Kirchner1, Siegfried Wagner, Peer Flemming, Joerg S Bleck, Michael Gebel, Ingolf Schedel, Andreas Schüler, Michael Galanski, Michael P Manns.   

Abstract

Here, we describe a 20-yr-old woman with COACH syndome (hypoplasia of Cerebellar vermis, Oligophrenia, congenital Ataxia, Coloboma, and Hepatic fibrosis) developing multiple liver lesions. Epigastric and right upper abdominal pain and lack of appetite led to clinical evaluation. Liver function tests showed an increase in transaminases and cholestatic parameters; alpha-fetoprotein was in the normal range. Ultrasound and magnetic resonance imaging examinations revealed multiple liver lesions. Histological examinations of ultrasonographically guided biopsies were consistent with regenerative hepatic nodules without features of malignant or dysplastic cells. The sizes of these tumors did not change over a period of 12 months. Our report presents the 10th case of COACH syndrome with a hitherto undescribed association with hepatic tumors.

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Year:  2002        PMID: 12385458     DOI: 10.1111/j.1572-0241.2002.06051.x

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  4 in total

1.  Diagnostic accuracy of serum biochemical fibrosis markers in children with chronic hepatitis B evaluated by receiver operating characteristics analysis.

Authors:  Dariusz Marek Lebensztejn; Elzbieta Skiba; Jolanta Tobolczyk; Maria Elzbieta Sobaniec-Lotowska; Maciej Kaczmarski
Journal:  World J Gastroenterol       Date:  2005-12-07       Impact factor: 5.742

2.  Novel variant syndrome associated with congenital hepatic fibrosis.

Authors:  Yusuf Bayraktar; Ozlem Yonem; Kubilay Varlı; Hande Taylan; Ali Shorbagi; Cenk Sokmensuer
Journal:  World J Clin Cases       Date:  2015-10-16       Impact factor: 1.337

3.  Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Authors:  D Doherty; M A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; M Dorschner; A J van Essen; W A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Ozyurek; I Phelps; P Rosenthal; A Verloes; H Weigand; P F Chance; W B Dobyns; I A Glass
Journal:  J Med Genet       Date:  2009-07-01       Impact factor: 6.318

Review 4.  Clinical manifestations of genetic instability overlap one another.

Authors:  Károly Méhes; György Kosztolányi
Journal:  Pathol Oncol Res       Date:  2004-03-18       Impact factor: 3.201

  4 in total

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