Document Detail


Familial perinatal liver disease and fetal thrombotic vasculopathy.
MedLine Citation:
PMID:  17990937     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The association between placental fetal thrombotic vasculopathy (FTV) and perinatal liver disease was not recognized until 2002, when Dahms and colleagues reported a series of 3 patients in whom severe liver disease developed in the first 2 days of life. All had abnormal liver histology and showed a variety of abnormalities, including Budd-Chiari syndrome, changes mimicking extrahepatic obstruction, lobular fibrosis, cholestasis, and hepatocyte giant cell transformation. We report recurrent significant perinatal liver disease in a family, associated with proven FTV in at least 1 pregnancy. A 30-year-old gravida 4 female with a history of heterozygous methylenetetrahydrofolate A1298C mutation had a normal 1st pregnancy and then experienced an intrauterine fetal demise at 38 weeks of gestation. Placental examination revealed extensive occlusive and mural thrombi of chorionic vessels associated with a large focus of avascular villi. Histologic examination of the liver showed extensive giant cell transformation and hepatocyte dropout. No excess hemosiderin pigment was present in the liver, pancreas, or heart. A 3rd pregnancy produced a live-born term infant with transient neonatal cholestasis. The 4th pregnancy also produced a term neonate who presented with acute hepatic failure of unknown cause, ultimately requiring liver transplantation. Fetal thrombotic vasculopathy is an underrecognized association with perinatal liver disease that may be associated with abnormal liver perfusion and that may recur in families, especially when a genetic thrombophilia is present.
Authors:
Linda M Ernst; Andrew B Grossman; Eduardo D Ruchelli
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-07-02
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  11     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2008 Mar-Apr
Date Detail:
Created Date:  2008-04-29     Completed Date:  2008-06-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  160-3     Citation Subset:  IM    
Affiliation:
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. ernst@email.chop.edu
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MeSH Terms
Descriptor/Qualifier:
Adult
Budd-Chiari Syndrome / complications,  pathology*
Chorionic Villi / blood supply
Family*
Female
Fetal Death / etiology,  pathology
Humans
Infant, Newborn
Liver Failure, Acute / complications,  pathology*
Placenta Diseases / pathology*
Pregnancy
Pregnancy Complications
Thrombosis / complications,  pathology*
Vascular Diseases / complications,  pathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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