Abstract
BackgroundLysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%.Patients and methodsWe report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.ResultsAt present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.ConclusionsLSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.
Highlights
Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites
At present, 12 different LSDs are described to be associated with NIHF or congenital ascites
LSD should be considered in transient hydrops
Summary
Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. Hydrops fetalis is a serious fetal condition defined as an abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural and/or pericardial effusion, and skin edema. In some patients, it may be associated with polyhydramnion and placental edema. Inborn errors of metabolism (IEM) may cause hydrops fetalis Most of these are lysosomal storage diseases. Around 14 different lysosomal storage diseases (LSD) have been reported as being associated with NIHF and congenital ascites [9,10,11]. Other conditions that may trigger ascites in LSD are congestive heart failure, hypoproteinaemia and liver dysfunction [12]
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