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Lysosomal storage diseases presenting as transient or persistent hydrops fetalis
M Bonduelle1, W Lissens, A Goossens
1Department of Medical Genetics, University Hospital, Vrije Universiteit Brussels.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1991
Summary
Lysosomal diseases like beta-glucuronidase deficiency can cause fetal hydrops. Early diagnosis through amniocentesis and cordocentesis is crucial for affected pregnancies.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Lysosomal Storage Diseases
Background:
- Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
- Fetal hydrops, characterized by fluid accumulation in fetus, can be a sign of underlying genetic conditions.
- Early identification of LSDs is critical for potential interventions and genetic counseling.
Observation:
- Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII) presented with fetal hydrops.
- A third case showed transient ascites, dysmorphic features, and neurological decline, diagnosed as GM1 gangliosidosis (beta-galactosidase deficiency).
- Enzyme deficiencies were confirmed in cultured amniotic fluid cells and fetal plasma.
Findings:
- Fetal hydrops can be a presenting sign of lysosomal diseases.
- Beta-glucuronidase deficiency and GM1 gangliosidosis are identified as causes of hydrops fetalis.
- Prenatal diagnosis of these LSDs is feasible through enzymatic assays.
Implications:
- Increased awareness and diagnostic testing for LSDs in cases of unexplained fetal hydrops are warranted.
- Amniocentesis and cordocentesis are recommended for prenatal diagnosis in suspected cases.
- Further research is needed to determine the exact frequency of LSDs presenting with hydrops fetalis.