Patient Data
Grossly abnormal skeletal survey.
Abnormal vertebral bodies, particularly at L2 where there is anterior inferior beaking and focal kyphosis.
Wide iliac wings, narrow iliac body and hypoplastic acetabula.
Short, wide tubular bones and pointed metacarpals with small carpals
Anterior inferior beaking of the L2 vertebral body is clearly demonstrated along with the resultant kyphosis.
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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