CASE 5725 Published on 02.03.2007

Sanfilippo syndrome


Musculoskeletal system

Case Type

Clinical Cases


Mornjakovic A, Catibusic F.


5 years, female

Clinical History
A patient presented with macrocephaly, coarse facial features and deafness.
Imaging Findings
The mentally retarded young girl was referred to the Pediatric Clinic with macrocephaly, coarse facial features and deafness. Further examination disclosed clouding of the cornea, progenia, the small and widely spaced teeth, short neck, kyphosis of the spine near the toracolumbar junction, coxa vara,hepatosplenomegaly and signs of atrial septal defect. Radiographs of the skull, chest, thoracolumbal junction, hand and hips were performed and these findings were typical of mucopolysaccharidosis. In the present case heparitin sulfaturia was only found. Heparan sulphamidase activity was deficient in leukocytes.
Mucopolysaccharidosis (MPS) type III or Sanfilippo syndrome was first identified by Meyer chemically in 1961 and it was studied clinically by Sanfilippo and his associates. They recognized that the mental retardation was unusually severe, but the somatic changes were relatively mild. An epidemiological study of the mucopolysaccharidoses in Western Australia using multiple ascertainment sources was carried out and the incidence rate for the period 1969 -1996 was estimated. An incidence of approximately 1 in 58,000 live births was obtained for MPS type III. The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 29,000 live births. In this syndrome heparansulphate accumulates in the lysosomes because of an enzymatic disorder in mucopolysaccharides degradation. The result is the functional disorder of the involved tissues. The Sanfilippo syndrome is characterized by a combination of mental deterioration, hepatosplenomegaly and a typical facial appearance. Clouding of the cornea and signs of the cardiac disease were rare. Radiographic changes in the skeleton are similar to those in MPS type I (Hurler syndrome) but milder, with the most diagnostic slight findings in the hands, pelvis and spine. In some MPS type III patients, serum vitamin D is low and bone mineral density greatly reduced at lumbar and femoral sites, indicating the possibility of osteoporosis and osteomalacia. These skeletal effects probably result from nutritional deficiencies and inability to walk, rather than from the genetic defect itself. It is possible that in many of severely retarded children MPS is never detected. Physicians evaluating adults also must remain aware of possible new adult presentations of storage conditions. Therefore, the real role of the radiologist is to suggest the likelihood of one of these disorders, leaving it to geneticist to determine biochemically which dysplasia is precisely involved. The dysostosis multiplex group contains all the MPS, mucolipidoses (MLs)and multiple other “storage diseases” that produce a skeletal dysplasia. Currently there are 46 known conditions in this group.
Differential Diagnosis List
Sanfilippo syndrome (MPS type III)
Final Diagnosis
Sanfilippo syndrome (MPS type III)
Case information
DOI: 10.1594/EURORAD/CASE.5725
ISSN: 1563-4086