Tibial pseudoarthrosis - neurofibromatosis type 1

Case contributed by Dr Andrew Dixon

Presentation

Progressive leg deformity.

Patient Data

Age: 22 months

There is a section of absent tibial shaft at the junction of the middle and distal thirds. There is angulation at this point with cupping of the tibia proximal to the absent section and sharpened narrow appearance of the bone distal to this mimicking the appearance of a joint.  

Case Discussion

This appearance is known as tibial pseudoarthrosis and is usually seen in neurofibromatosis type 1, which was true in this case. There is similar deformity of the fibula.

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Case information

rID: 10316
Published: 3rd Aug 2010
Last edited: 7th Nov 2018
Tag: nf1
Inclusion in quiz mode: Included

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