Neurofibromatosis type 1: tibial bowing and fibular pseudoarthrosis
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There is anterolateral bowing of the tibia, resulting in a "S-shape". Narrowing of medullary cavity is noted with cortical thickening. Distal fibular pseudoarthrosis.
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.
- Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1109/