Literature DB >> 10833378

Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.

H Soma1, K Yamada, H Osawa, T Hata, T Oguro, M Kudo.   

Abstract

Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which usually present as vacuolization of placental cells. We describe a rare case of recurrent hydrops that was detected by placental examination. Through light microscopy, electron microscope (EM) studies and beta-glucocerebrosidase activity the disease was identified as Gaucher's disease. Copyright 2000 Harcourt Publishers Ltd.

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Year:  2000        PMID: 10833378     DOI: 10.1053/plac.1999.0483

Source DB:  PubMed          Journal:  Placenta        ISSN: 0143-4004            Impact factor:   3.481


  6 in total

Review 1.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

Review 2.  Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Authors:  Sophie Collardeau-Frachon; Marie-Pierre Cordier; Massimiliano Rossi; Laurent Guibaud; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-04-22       Impact factor: 4.982

3.  Non-immune fetal hydrops: Are we doing the appropriate tests each time?

Authors:  W Kurdi
Journal:  J Prenat Med       Date:  2007-01

Review 4.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

Review 5.  Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Authors:  Emily C Daykin; Emory Ryan; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2021-01-09       Impact factor: 4.797

Review 6.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123

  6 in total

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