SIALIDOSIS AND GALACTOSIALIDOSIS - A CAUS E OF NONIMMUNOLOGICAL HYDROPS-FETALIS

Two cases of non-immunological hydrops fetalis (NIHF) presenting with massive ascites are reported; in both patients an oligosaccharid-patte rn in the urine typical for sialidosis resp. galactosialidosis was fou nd. The cerebral sonography of both patients showed streaky echo enhan cement in the region of the thalamostriatal vessels, which was interpr eted as calcification of the vessels. The courses of the patients were characterised by recurrent infections, hepatosplenomegaly and myoclon us. Relevant Literature reports on a large variability in the clinical appearance of oligosaccharidoses. The diagnosis of sialidosis is conf irmed in cultured fibroblasts by the deficiency of alpha-N-acetylneura minidase and, in case of galactosialidosis by the additional lack of b eta-galactosidase. The precise diagnosis in NIHF is of increasing inte rest for prenatal diagnostic as well as for neonatological management.