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Bony changes in common mucopolysaccharidoses
1Department of Medical Imaging, National Taiwan University Hospital, Taipei, R.O.C.
Abstract:
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.
Insights
Radiological features of mucopolysaccharidoses (MPS) show varying dysostosis multiplex. Specific bone changes aid in classifying MPS types like Hurler, Hunter, Sanfilippo, and Morquio syndromes.
Area of Science:
- Medical Imaging
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- These disorders result in the accumulation of glycosaminoglycans in various tissues.
- Skeletal abnormalities, known as dysostosis multiplex, are a hallmark of MPS.
Purpose of the Study:
- To evaluate and describe the distinct radiological features of different types of MPS.
- To correlate specific bone abnormalities with particular MPS subtypes.
Main Methods:
- Retrospective review of radiological data from 15 MPS patients.
- Classification of patients into Hurler, Hunter, Sanfilippo, and Morquio syndromes.
- Detailed analysis of skeletal abnormalities observed on X-rays.
Main Results:
- Dysostosis multiplex is a common finding, with characteristic features varying by MPS type.
- Hurler syndrome shows specific changes like J-shaped sella turcica and paddle-like ribs.
- Morquio syndrome presents with vertebral plana and distinct tibial and ulnar deformities.
Conclusions:
- Radiological findings are crucial for the classification of MPS subtypes.
- While skeletal features suggest specific MPS types, definitive diagnosis requires enzyme analysis.