Presentation
Progressive skeletal dysplasia on skeletal survey following a fall at age 3.
Patient Data
Generalized appearance of osteopenia with marked cortical thinning. The metacarpals are short and broad. There is marked irregularity and areas of sclerosis within the carpal bones. There is also increased irregularity within the head of the middle and ring finger metacarpals. Destruction of the radial and ulnar epiphysis with marked deformity and sclerosis.
Case Discussion
This is a case of a child with suspected mucopolysaccharidosis, the subtype of which remains unknown due to inconclusive tests. There has been progressive skeletal dysplasia since a skeletal survey was performed after a fall at age 3.
Unusual developmental defects were noted in the hands and feet at the time. Follow up radiographs were obtained on a yearly basis to monitor progressive changes and aid diagnosis, culminating in the above appearance at age 10.
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