Presentation
Right lower limb pain
Patient Data
The absent tibial shaft at the junction of the middle and distal thirds is notable. Anterior angulation at this point of the tibia, proximal to the absent section, is depicted, mimicking the appearance of a joint (pseudoarthrosis).
A licked candy stick appearance of distal fibular bone is visible.
Case Discussion
The patient has neurofibromatosis type 1, and this is pseudarthrosis of the tibia as a musculoskeletal manifestation.
Tibial pseudarthrosis occurs in association with neurofibromatosis in 55% of patients, although only 6% of patients with neurofibromatosis have pseudarthrosis.
Treatment includes fracture prevention; once a fracture occurs, surgery is indicated to attempt to achieve bony union and maintain it until skeletal maturity.
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