A Case of Infantile Sialidosis Associated with Congenital Chylous Ascites

Abstract

We reported a male of infantile type sialidosis with coarse face, ascites, hepatosplenomegaly and vacuolated lymphocytes. Sialidase deficiency was detected using 4-methyl-umbelliferyl substrate. This boy died of malnutrition and infection on the 56th day after birth. Main autopsy findings were gross adhesion of abdominal organs and large perforation of duodenum wall, which indicated the presence of congenital panperitonitis. The cause of congenital ascites in this case was due to congenital pan-peritonitis.