Mucolipidosis type III

Case contributed by Dr Jeremy Jones

Patient Data

Age: 8 years
Gender: Male
X-ray

Selected images from the skeletal survey

Grossly abnormal skeletal survey.

CT

Anterior inferior beaking of the L2 vertebral body is clearly demonstrated along with the resultant kyphosis.

MRI

The vertebral bodies are relatively small with hypertrophied intervertebral discs.  No cord abnormality.

Case Discussion

There is clearly a systemic process at play here and with the anterior vertebral body beaking, we should be well on our way to a differential diagnosis. Since the beaking is inferior, don't include Morquio syndrome.

Achondroplasia would be close to the top of the list based on the lateral spine appearances. However, the iliac blades are not squared and there is no narrowing of interpedicular distance in the lumbar spine.

Hurler syndrome is probably the best fit, especially with the hand features. However, blood tests did not fit.

In fact, this is a case of mucolipidosis type III (pseudo-Hurler syndrome). As the name implies, clinical and radiological features are similar to Hurler syndrome.

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Case information

rID: 24353
Case created: 9th Aug 2013
Last edited: 4th May 2017
Inclusion in quiz mode: Included

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