Region:

Text Size

  • Smaller
  • Regular
  • Large

Radiological expression of MPS disorders12

In the MPS disorders, the most common radiological expression is dysostosis multiplex. Dysostosis multiplex changes occur in the skeletal system, manifest primarily in the skull, thorax, pelvis, hands and vertebrae, and are widespread.12

Importantly, the greater the number of skeletal changes in an individual patient, the higher the likelihood of an MPS disorder. As with other suspicious symptoms, widespread radiological manifestations warrant a referral to a geneticist or metabolic disease specialist for definitive diagnosis.12

Characteristic manifestations of dysostosis multiplex12

Dysostosis multiplex in the skull12

Place your cursor over each image below to see more information

In the skull, dysostosis manifests as a thickened diploic space and an abnormal J-shaped sella.12

Dysostosis multiplex in the thorax12

Place your cursor over each image below to see more information

In the thorax, dysostosis manifests as shortened, often thickened clavicles and paddle (oar-shaped) ribs that are classically thin posteriorly and widen as they extend anteriorly. By itself, shortening of the clavicle is less characteristic of MPS disease.12

Dysostosis multiplex in the spine12

Place your cursor over each image below to see more information

In the spine, dysostosis multiplex manifests primarily as superiorly notched (inferiorly beaked) vertebral bodies in the lateral view at the thoracolumbar junction. Note that a single-notched vertebrae is not sufficient for dysostosis multiplex.12

Many types of MPS disorders are also associated with posterior scalloping (dural ectasia). A combination of anterior notching and posterior scalloping is very characteristic of MPS disease.

Dysostosis multiplex in the pelvis and hips12

Place your cursor over each image below to see more information

In the pelvis, dysostosis multiplex manifests as rounded iliac wings and inferiorly tapered ilia. Ilia tapered inferiorly sloping down to include the acetabulum is very characteristic of MPS disorders. Another more novel finding is a double wall in the lower lateral portion of the ilium extending to the acetabulum.12

Dysostosis multiplex in the long bones12

Place your cursor over each image below to see more information

In the long bones, dysostosis multiplex manifests as mildly hypoplastic epiphyses, hypoplastic, dysplastic or fragmented capital femoral epiphyses, proximal humoral notching, long/narrow femoral necks, hypoplastic distal ulnae, and/or short/thickened diaphyses.12

Dysostosis multiplex in the distal extremities (hands)12

Place your cursor over each image below to see more information

In the hands, dysostosis multiplex manifests as proximally pointed metatarsals, thick, short metacarpals with thin cortices, irregular hypoplastic carpal bones, and/or tarsal bones with irregular contours (feet).12

 Next: Recognize the spectrum of severity

Reference

  1. Lachman RS. Radiographic detection of mucopolysaccharidoses (MPS) BioMarin White Paper. A guide to understanding Maroteaux-Lamy Syndrome: Mucopolysaccharidosis (MPS) VI. The National MPS Society, Inc.
Normal diploic plates and mild J-shaped sella Severe abnormal J-shaped sella Thickened diploic space and severe abnormal J-shaped sella Normal vs. abnormal (eroded) J-shaped sella Thick clavicles, severely thickened ribs Normal clavicles, mild paddle ribs Short clavicles, paddle ribs, and proximal thinning of the humerus Classic superior notching of several vertebrae Extensive anterior-superior notching, middle breaking and posterior scalloping Mild, more extensive Superior notching; pronounced Rounded iliac wings, double-contoured ileal lateral walls, elongated femoral necks Rounded iliac wings, mild ileal tapering Lower iliac wing tapering, capital femoral epiphyseal (CFE) dysplasia Elongated femoral neck Mesomelia and distal hypoplasia of the radius and ulna Humeral notching, distal radial and ulnar shortening with thick diahysis (mesomelia) Proximal humeral notching Teenager: proximal pointing, brachymetacarpalia, metaphyseal irregularity/cupping, ulnar hypoplasia, irregular carpal centers Age 2 years: mild proximal pointing, metacarpal widening with thin cortices, carpal/epiphyseal ossification delay Late childhood: classic, very severe proximal pointing, thin cortices, small/irregular carpal bones, ulnar hypoplasia Late infancy: classic, very severe proximal pointing, wide shortened metacarpals and phalanges, thin cortices text/javascript"> var gaJsHost = (("https:" == document.location.protocol) ? "https://ssl." : "http://www."); document.write(unescape("%3Cscript src='" + gaJsHost + "google-analytics.com/ga.js' type='text/javascript'%3E%3C/script%3E"));