Metaphyseal dysplasia

Case contributed by Yaïr Glick
Diagnosis almost certain

Patient Data

Age: 25-30 years
Gender: Female
x-ray

VP shunt placed due to an obstructing intracranial neoplasm.
Severe thoracolumbar kyphoscoliosis.
Pronounced "Erlenmeyer flask" metaphyseal flaring with ring-like medullary calcifications (not unlike the rings-and-arcs calcification of enchondromas).
The joints are relatively preserved, e.g. the glenohumeral joints are barely deformed, in contradistinction to the grossly widened humeral metaphyses and scapular coracoid processes.
The left medial femorotibial joint space is narrowed, indicating a flattened medial meniscus.

Case Discussion

Very pronounced metaphyseal flaring present in the long bones of the arms, hands, and legs, compatible with metaphyseal dysplasia.

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