HYPERPHOSPHATASEMIA IN EARLY DIAGNOSED INFANTILE GM1 GANGLIOSIDOSIS PRESENTING AS TRANSIENT HYDROPS-FETALIS

The authors report a case of unsuspected fetal storage disorder initia lly diagnosed by placental examination performed because of a transien t ascites at 28 weeks of gestation. At birth mild dysmorphic features and gradual neurological deterioration were observed. Highly elevated alkaline phosphatase levels were repeatedly noticed. Deficiency of bet a-galactosidase was documented confirming GM1 gangliosidosis. Previous reports described the placental pathology after positive prenatal dia gnoses of lysosomal diseases. In the present case, the postnatal diagn osis was made in view of the placental pathologic findings. Our observ ation indicates the need for thorough investigations in hydrops fetali s, in search for metabolic diseases.