Mucopolysaccharidoses (MPS)

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed

Etiology/Pathophysiology:
Abnormality of mucopolysaccharide and or glycoprotein metabolism. Abnormal mucopolysaccharide accumulates in numerous cell types including peripheral leukocytes, bone marrow cells, and fibroblasts.

Pathology:
Not applicable

Imaging Findings:
The hands are osteopenic with short wide metacarpals and phalanges. The distal radius and ulna are slanted towards each other in a "V" shape. The chest has short thick clavicles and oar shaped ribs. Ovoid vertebral bodies are seen in the thoracic spine with an associated thoracolumbar scoliosis. Flared iliac wings and shallow acetabulae are present along with coxa valga and flaring of the femoral metaphyses. An enlarged, elongated calvarium with widened coronal sutures is present and there is a J shaped deformity of sella.

DDX:

• Not applicable

References:
See References Chapter.

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