Abstract
Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the
case of a 29-day-old boy who had increased body swelling, difficulty breathing, and
petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical
laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia,
nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge
was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA
mutation.
Keywords
galactosialidosis - anasarca - thrombocytopenia - neonatal ascites - congenital nephrotic
syndrome