Mucolipidosis type III

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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