Bony changes in common mucopolysaccharidoses

To evaluate the radiological features of mucopolysaccharidoses (MPS), 15 cases were collected for review in this hospital, retrospectively (1985-1995). Eight cases of Hurler syndrome, two cases of Hunter syndrome, two cases of Sanfilippo syndrome and three cases of Morquio syndrome were classified. Varying severity of dysostosis multiplex is the general bony manifestation of MPS, but special appearance may occur in particular types. Hurler syndrome is the prototype of MPS. The main findings were as follows: "J" shaped sella turcica, paddle-like ribs, anterior inferior beaking (hook-like) of lower thoracic-upper lumbar hypoplastic vertebral bodies, flared iliac wings, constrictive iliac bodies, diaphyseal expansion of long bones, distal ulna and radius tilt toward each other, bullet-like proximal phalanges and central pointing of proximal metacarpals. Hunter and Sanfilippo syndromes had the appearance of moderate to mild dysostosis multiplex. Morquio syndrome had distinctive bony changes as vertebral plana and tongue-like protrusion in the anterior part of the lower thoracic-upper lumbar vertebral bodies, particularly short of the distal deformed ulna and poor ossification of the proximal lateral tibial epiphyses. Although clinical presentations and the hallmarks of bony changes helped possible classification of MPS, definite diagnosis depends on enzyme analysis.