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Q J Med 2004; 97: 205-209
QJM vol. 97 no. 4 (c) Association of Physicians 2004; all rights reserved.

Secondary skeletal involvement in Sanfilippo syndrome

D. Rigante1 and P. Caradonna2

From the Departments of 1Pediatric Sciences and 2Internal Medicine, Università Cattolica Sacro Cuore, Rome, Italy

Received 17 October 2003 and in revised form 19 January 2004

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.

Address correspondence to Dr D. Rigante, Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Policlinico Universitario ‘A. Gemelli’, Largo Gemelli n. 8 I-00168, Rome, Italy. e-mail: drigante{at}libero.it


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