Neurofibromatosis type 1 - tibial bowing and fibular pseudoarthrosis

Case contributed by Henry Knipe
Diagnosis certain


Difficulty walking.

Patient Data

Age: 1 year
Gender: Male

There is anterolateral bowing of the tibia, resulting in a "S-shape". Narrowing of medullary cavity is noted with cortical thickening. Distal fibular pseudoarthrosis. 

Case Discussion

This patient had a known diagnosis of neurofibromatosis type 1. A co-existing mesodermal dysplasia is the cause for the bowing and pseudoarthrosis, which is most common in the tibia and fibula, and are typical features of NF1. 

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