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Virtual Pediatric Hospital: Paediapaedia: Mucopolysaccharidoses (MPS) Paediapaedia: Musculoskeletal Diseases

Mucopolysaccharidoses (MPS)

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


Clinical Presentation:
Apparent in the first few months of life. The clinical findings vary according to which of the mucopolysaccharidoses the patient has. The radiographic pattern is sensitive for the detection of a mucopolysaccharidoses but not specific to differentiate between them.

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:

References:
See References Chapter.

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