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Mucopolysaccharidosis (MPS)-Xray Diagnosis

This is a typical case of morquio's syndrome.
  •  There is evidence of kyphoscoliosis and central beaking. This can be distinguished from the ovoid vertebral bodiesof Hurler’s syndrome and other mucopolysaccharidoses. The central anterior beaking of Morquio’s syndrome also differs from the anteroinferior beaking of Hurler’s syndrome and other mucopolysaccharidoses.

  • AP radiography of both hands with wrist revealed conical (bullet-shaped) proximal bases of metacarpals. The ossified carpal bones are small and reduced in number for the patient age. 
  • The planes of both the distal ulnar and radial growth plates were slanted towards each other
  • The pelvic film showed flared ilium laterally with inferior constriction (wine-glass shape)
  • Frontal view of the femurs reveals enlarged acetabular cavities with rough margins, and poorly formed femoral epiphyses and widened femoral necks with coxa valga. 
  • X-rays of both knees in AP views showed genu valgus, metaphyseal expansion of long bones

All these typical radiological features are of metabolic syndrome of Morquio syndrome.

Mucopolysaccharidosis (MPS)-Xray Diagnosis Reviewed by Sumer Sethi on Friday, January 03, 2014 Rating: 5

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