The term Nephrosialidosis was proposed by Maroteaux et al. (1978) for a type of oligosaccharidosis with a rapidly progressive glomerular nephropathy with dysmorphic features, skeletal abormalities and neurodevelopmental delay. Aylsworth et al. (1980) described a case of nephrosialidosis, which was distinguishable from other forms of neuraminidase deficiency by congenital ascites, early-onset pericardial effusion, nephrosis, and greater overall severity.