Riemen Anna H K, Riches James R, Love Gavin J, Maclean James G B
Department of Trauma and Orthopaedic Surgery, Perth Royal Infirmary, Taymount Terrace, Perth, UK.
J Pediatr Orthop B. 2011 Mar;20(2):94-6. doi: 10.1097/BPB.0b013e3283413542.
Two children presented with an isolated foot and ankle deformity. Examination in each suggested a plexiform neurofibroma although this diagnosis had not been considered before referral. Diagnosis of neurofibromatosis type 1 was confirmed by MRI scanning and on investigation both patients were proved to have widespread disease. One had a plexiform neurofibroma encasing the aorta and oesophagus. Both cases remain under observation and have not undergone surgery for their disease. Neurofibromatosis can present with isolated foot and ankle deformity and when such a diagnosis is suspected thorough investigation is important in a condition in which unsuspected widespread disease may exist.
