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 con
genital ascites. The antenatal diagnostic techniques, including ultras
ound, maternal antibody screen and fetoscopy with fetal karyotyping, a
s well as postnatal exhaustive study, failed to determine the underlyi
ng 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 h
ave been ruled out.