Hydrops fetalis, fair complexion, hypertrophic cardiomyopathy and nephrotic syndrome

We describe a female infant with dysmorphic facies, fair skin and blue eyes, affected since birth by psychomotor retardation, cardiomyopathy and nephrotic syndrome. The clinical picture was suggestive of infantile sialic acid storage disease. The diagnosis was confirmed by the increased urinary excretion of sialic acid. The disease is due to a defect of the specific lysosomal membrane carrier for sialic and uronic acids. The gene (SLC17A5) maps to 6q14-q15. Differential diagnosis includes many other lysosomal storage diseases that may be excluded with a careful clinical evaluation and biochemical tests.