Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Abstract

OBJECTIVES:

Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution.

METHODS:

We present a retrospective case-control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed.

RESULTS:

Between January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8/28 (28.6%), sialic acid storage disease (SASD) 5/28 (17.9%), mucopolysaccharidosis VII 5/28 (17.9%), Gaucher 4/28 (14.3%), sialidosis 2/28 (7.1%), GM1 gangliosidosis 2/28 (7.1%), Niemann-Pick disease type C 1/28 (3.6%), and mucolipidosis II/III 1/28 (3.6%). Associated clinical features were hepatomegaly 16/21 (76.2%) vs 22/65 (33.8%), P < .05, splenomegaly 12/20 (60.0%) vs 14/58 (24.1%), P < .05, and hepatosplenomegaly 10/20 (50.0%) vs 13/58 (22.4%) P < .05.

CONCLUSION:

The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.

• Authors: Huda B Al-Kouatly, Laura Felder, Mona M Makhamreh, Stephanie L Kass, Neeta L Vora, Vincenzo Berghella, Seth Berger, David A Wenger, Paola Luzi
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 40 Issue 6 Pg. 738-745 (05 2020) ISSN: 1097-0223 [Electronic] England
• PMID: 32134517 (Publication Type: Journal Article)
• Copyright: © 2020 John Wiley & Sons, Ltd.

Topics

• Adult
• Ascites (diagnostic imaging)
• Case-Control Studies
• Edema (diagnostic imaging)
• Female
• Gaucher Disease (complications, diagnosis)
• Gestational Age
• Hepatomegaly (diagnostic imaging)
• Humans
• Hydrops Fetalis (diagnostic imaging, etiology)
• Infant, Newborn
• Lysosomal Storage Diseases (complications, diagnosis)
• Male
• Mucolipidoses (complications, diagnosis)
• Mucopolysaccharidosis VII (complications, diagnosis)
• Niemann-Pick Disease, Type C (complications, diagnosis)
• Pericardial Effusion (diagnostic imaging)
• Pleural Effusion (diagnostic imaging)
• Polyhydramnios (diagnostic imaging)
• Pregnancy
• Prenatal Diagnosis
• Retrospective Studies
• Sialic Acid Storage Disease (complications, diagnosis)
• Skin (diagnostic imaging)
• Splenomegaly (diagnostic imaging)
• Young Adult