PMID: 9440957Jan 24, 1998Paper

Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis

Zeitschrift für Geburtshilfe und Neonatologie
M SchmidtP Bartmann

Abstract

Two cases of non-immunological hydrops fetalis (NIHF) presenting with massive ascites are reported; in both patients an oligosaccharid-pattern in the urine typical for sialidosis resp. galactosialidosis was found. The cerebral sonography of both patients showed streaky echo enhancement in the region of the thalamostriatal vessels, which was interpreted as calcification of the vessels. The courses of the patients were characterised by recurrent infections, hepatosplenomegaly and myoclonus. Relevant literature reports on a large variability in the clinical appearance of oligosaccharidoses. The diagnosis of sialidosis is confirmed in cultured fibroblasts by the deficiency of alpha-N-acetylneuraminidase and, in case of galactosialidosis by the additional lack of beta-galactosidase. The precise diagnosis in NIHF is of increasing interest for prenatal diagnostic as well as for neonatological management.

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