D Rigante1, P Caradonna. 1. Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Rome, Italy. drigante@libero.it
Abstract
BACKGROUND: Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, is a rare lysosomal storage disease, resulting from errors in the catabolism of heparan sulphate. AIM: To evaluate bone turnover and bone mineral density (BMD) in MPS type III patients. DESIGN: Clinical and observational study. METHODS: We evaluated serum markers of bone formation or resorption, and measured BMD using dual-energy X-ray absorptiometry (DEXA), in three patients with MPS type III. RESULTS: Serum vitamin D were low, and BMDs greatly reduced at lumbar and femoral sites, indicating the possibility of osteoporosis and osteomalacia. DISCUSSION: These skeletal effects probably result from nutritional deficiencies and inability to walk, rather than from the genetic defect itself. Secondary skeletal involvement in patients with MPS type III may represent a considerable cause of morbidity, and requires interventions to reduce the risk of pathological fractures.
BACKGROUND:Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, is a rare lysosomal storage disease, resulting from errors in the catabolism of heparan sulphate. AIM: To evaluate bone turnover and bone mineral density (BMD) in MPS type IIIpatients. DESIGN: Clinical and observational study. METHODS: We evaluated serum markers of bone formation or resorption, and measured BMD using dual-energy X-ray absorptiometry (DEXA), in three patients with MPS type III. RESULTS: Serum vitamin D were low, and BMDs greatly reduced at lumbar and femoral sites, indicating the possibility of osteoporosis and osteomalacia. DISCUSSION: These skeletal effects probably result from nutritional deficiencies and inability to walk, rather than from the genetic defect itself. Secondary skeletal involvement in patients with MPS type III may represent a considerable cause of morbidity, and requires interventions to reduce the risk of pathological fractures.
Authors: Calogera M Simonaro; Marina D'Angelo; Xingxuan He; Efrat Eliyahu; Nataly Shtraizent; Mark E Haskins; Edward H Schuchman Journal: Am J Pathol Date: 2007-12-13 Impact factor: 4.307
Authors: Albina Tummolo; Orazio Gabrielli; Alberto Gaeta; Maristella Masciopinto; Lucia Zampini; Luigi Michele Pavone; Paola Di Natale; Francesco Papadia Journal: Case Rep Med Date: 2013-11-18