Association of Adams–Oliver syndrome and hepatoportal sclerosis: An additional case

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  • 2006 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 140A:10281029 (2006)


    Association of AdamsOliver Syndrome andHepatoportal Sclerosis: An Additional Case

    Guillaume Pouessel,1 Anne Dieux-Coeslier,2 Agne`s Wacrenier,3 Monique Fabre,4

    and Frederic Gottrand1*1Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics,

    Lille University Childrens Hospital and Faculty of Medicine, Lille, France2Department of Genetics, Lille University Childrens Hospital, Lille, France

    3Pathology, Lille University Childrens hospital, Lille, France4Pathology, Bicetre University Hospital, AP-HP, Paris, France

    Received 27 August 2005; Accepted 31 January 2006

    How to cite this article: Pouessel G, Dieux-Coeslier A, Wacrenier A, Fabre M, Gottrand F. 2006.Association of AdamsOliver syndrome and hepatoportal sclerosis: An additional case.

    Am J Med Genet Part A 140A:10281029.

    To the Editor:

    Girard et al. recently reported the association ofAdamsOliver syndrome and hepatoportal sclerosisin two unrelated children [Girard et al., 2005]. Theauthors raise the question of whether this associationis fortuitous or due to common vascular thromboticmechanism. We report on the same association ofboth disorders in an additional case.

    A male of French origin was the first child born tonon-consanguineous healthy parents. Family historywas unremarkable. He was born at 41 weeks ofgestation with a birth weight of 2,800 g and did notreceive a venous umbilical catheter. Aplasia cutiscongenital, limb defects (syndactyly of left toes twoand three, absence of middle phalanx of left toes twoand five and right toe five, hypoplasia of distalphalanx of each left toe), and cutis marmorata werenoted at birth. Chromosome analysis showed anormal 46,XY karyotype.

    At 3 years of age, he underwent plastic surgeryfor aplasia cutis repair and a thrombocytopenia(70 109/ml) was noted pre-operatively. At examina-tion splenomegaly was also noted but there was noliver enlargement and liver function tests werenormal. Prothrombin time was 70% (normal >65%)and factor V 61% (normal>65%). Portal hypertensionwas suspected. Endoscopyof theupper digestive tractfound Grade II esophageal varices. AbdominalDoppler echography and tomodensitometry withinjection neither show any obstruction of hepaticportal vein nor left and right portal intrahepatic vein.Percutaneous liver biopsy showed histological pat-

    terns consistent with the diagnosis of hepatoportalsclerosis: portal fibrosis, loss of intrahepatic portalveins with dilated neocapillaries, and neoveinulesin place of host veins. No nodular regenerationwas observed. Other causes of cirrhosis andportal hypertension were excluded. Thrombophiliatesting included factor V Leiden, prothrombin 20210Amutation, methylene tetrahydrofolate reductase defi-ciency, anticardiolipin antibodies, antithrombin defi-ciency, protein S deficiency, and protein C deficiencywas negative. A 1-year follow-up showed increasingesophageal varices Grade III.

    Until now only three cases of the association ofAdamsOliver syndrome and hepatoportal sclerosishave been reported [Swartz et al., 1999; Girard et al.,2005]. The pathological mechanism of hepatoportalsclerosis remains unclear. Girard et al. propose thatvasculopathy and thrombosis, possibly favored by agenetic pre-disposition, could lead to different typesof lesions and to the association of AdamsOliversyndrome and hepatoportal sclerosis. Girard et al.reported decreased activity of anticoagulant proteinsin their two cases. Pre-disposing factor of thrombosis

    *Correspondence to: Prof. Frederic Gottrand, Unite de Gastroenter-ologie, Hepatologie et Nutrition, Clinique de Pediatrie, Hopital Jeanne deFlandre, 2 avenue Oscar Lambret, 59037 Lille cedex, France.E-mail:

    DOI 10.1002/ajmg.a.31192

  • was not identified in our case. Unlike the twocases reported by Girard et al., the girl described bySwartz et al. and our child presented a pure case ofhepatoportal sclerosis since no obstruction of any ofthe portal veins was found.

    This additional case reinforces the hypothesis thatAdamsOliver syndrome and hepatoportal sclerosisshare a vascular thrombotic mechanism and that thisassociation is not fortuitous. Careful clinical exam-ination and liver ultrasonography should be per-formed for patients with AdamsOliver syndrome to

    detect portal hypertension that could appear duringthe first years of life.


    Girard M, Amiel J, Fabre M, Pariente D, Lyonnet S, Jacquemin E.2005. AdamsOliver syndrome and hepatoportal sclerosis:Occasional association or common mechanism? Am J MedGenet Part A 135A:186189.

    Swartz EN, Sanatani S, Sandor GG, Scheiber RA. 1999. Vascularabnormalities in AdamsOliver syndrome: Cause or effect?Am J Med Genet 82:4952.


    American Journal of Medical Genetics Part A: DOI 10.1002/ajmg.a


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