PMID: 8950724Jan 1, 1996Paper

GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report

Journal of Perinatal Medicine
M J TassoR Tebar

Abstract

We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal exhaustive study, failed to determine the underlying cause. Because of progressive neurologic deterioration a lysosomal storage disease was suspected and confirmed by skin biopsy. We wish to add a new case of a lysosomal storage disease to the growing list of nonimmune hydrops fetalis etiologies, and to highlight the importance of enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascitis have been ruled out.

References

Oct 1, 1989·Archives of Disease in Childhood·I K MaconochieA P Mowat
Nov 1, 1989·American Journal of Medical Genetics·G A Machin
Feb 1, 1984·The Journal of Pediatrics·J E GillanE Cutz
Jun 1, 1982·The Journal of Pediatrics·K I Abu-DaluS Yatziv

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Citations

Jan 20, 2006·Acta Paediatrica·Maria Teresa SinelliGaetano Chirico
Apr 2, 2009·Pediatrics·Orna Staretz-ChachamEllen Sidransky
Jun 19, 2002·Seminars in Neonatology : SN·J E Wraith
May 8, 2010·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Christoph CzernikChristoph Bührer
Oct 21, 1999·Molecular Genetics and Metabolism·N TayebiE Sidransky

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