Hydrops fetalis associated with erythrocyte pyruvate kinase deficiency

The authors report a case of hydrops fetalis due to severe pyruvate kinase deficiency, the most unusual clinical manifestation of this disease. Conclusion Pyruvate kinase deficiency, as other erythrocyte enzymopathies, must be considered in the differential diagnosis of non-immune hydrops feta lis. This has important implications for clinical investigations, therapy a nd genetic counselling.