SANFILIPPO DISEASE TYPE-B - A CASE-REPORT AND REVIEW OF THE LITERATURE ON RECENT ADVANCES IN BONE-MARROW TRANSPLANTATION

A patient with enzymatically proven Santilippo disease type B is prese nted. This type of mucopolysaccharidosis results from deficient o-N-ac etylglucosaminidase activity leading to defective degradation of hepar an sulphate. As this disease is associated with high morbidity and mor tality, different therapeutic approaches are under investigation. Bone marrow transplantation is among these new choices of management. The value of bone marrow transplantation in the mucopolysaccharidoses, esp ecially in MPS IIIB, is discussed with a wide review of the literature .