Mucopolyssaccharidosis

Case contributed by Dr Jeremy Jones
X-ray

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Case Discussion

Although the heart is not enlarged, even allowing for technique, there does appear to be some increase in pulmonary shadowing particularly at the right base. The clavicles appear a little short.  The ribs appear normal. 

Pelvis: The acetabulae are dysplastic. The inferior aspects of the iliac bones are narrow. The left femoral head is just a little denser than the right and at some stage a follow up xray to check for the development of avascular necrosis may be useful. 

Lateral spine: There is an obvious defect in the second lumbar vertebrae with slight flattening of the other vertebrae and a kyphos at the dorsolumbar junction.

Skull xray: There is a J shaped sella. The skull vault is large. Further imaging to exclude the presence of hydrocephalus may be indicated particularly if clinical examination supports the presence of any raised intracranial pressure. 

Left hand: There is pointing of the inferior metacarpals. At the present time the carpal bones have a normal appearance. The ulna appears short. 

Right arm: Apart from a slightly shortened ulna no definite abnormality other than the similar changes in the hands. 

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Case information

rID: 8038
Case created: 4th Jan 2010
Last edited: 17th Oct 2015
Inclusion in quiz mode: Included

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