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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2019; 06(03): 147-150
DOI: 10.1007/s40556-019-00216-8
Genetics in Fetal Medicine

Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family

Ranjana Mishra
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
Sunita Bijarnia-Mahay 
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
Nidhish Sharma
2   Department of Fetal Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
Nandita Dimri
2   Department of Fetal Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
Renu Saxena
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
Ratna Dua Puri
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
,
I. C. Verma
1   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, Delhi, India
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Abstract

Gaucher disease is the most common of the lysosomal storage disorders, with a continuum of clinical features ranging from a perinatal lethal form to an asymptomatic form. Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is a distinct, severe form of type II Gaucher disease and typically presents as non- immune hydrops fetalis, hepatosplenomegaly and ichthyosiform abnormalities in the fetal life. We herein report a family with a spectrum of usual (i.e. hepatosplenomegaly) and unusual (i.e. absence of hydrops and presence of significant intrauterine growth restriction) features of PLGD with a genetic diagnosis of homozygous RecNciI mutation in the GBA gene.

Keywords

Hydrops - Fetal - Perinatal-lethal - IUGR - Recombinant allele - RecNciI - Non immune-hydrops


Publication History

Received: 12 July 2019

Accepted: 03 September 2019

Article published online:
08 May 2023

© 2019. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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