Accession Number : ADA614112


Title :   Tibial Bowing and Pseudarthrosis in Neurofibromatosis Type 1


Descriptive Note : Final rept. 1 Apr 2011-31 Dec 2014


Corporate Author : UTAH UNIV SALT LAKE CITY


Personal Author(s) : Stevenson, David


Full Text : https://apps.dtic.mil/dtic/tr/fulltext/u2/a614112.pdf


Report Date : Jan 2015


Pagination or Media Count : 77


Abstract : Anterolateral tibial bowing is a morbid skeletal manifestation observed in 5% of children with neurofibromatosis type 1 (NF1), typically identified in infancy. The majority of NF1 individuals with tibial bowing will sustain a fracture that will not heal (i.e. pseudarthrosis) resulting in multiple surgeries, poor limb function, and amputation. Some NF1 individuals with tibial bowing, however, do not fracture and the bowing improves over time. Clinical predictors to help drive management are lacking, and the pathophysiology of tibial bowing and pseudarthrosis is not well understood. Our objective was to identify clinical predictors of tibial pseudarthrosis and better understand its pathophysiology. The data showed that quantitative bone ultrasound was able to distinguish an affected leg in individuals with neurofibromatosis type 1 (NF1). This further confirms a decrease of bone mineralization of the bowed tibia. The importance of this finding is that this can now be used as an outcome measure for clinical trials.. We also confirmed the molecular etiology of tibial dysplasia as double inactivation of the NF1 gene. In addition, we provide evidence that the periosteum likely harbors the somatic mutation.


Descriptors :   *BONES , AMPUTATION , CELLS(BIOLOGY) , CHILDREN , CLINICAL MEDICINE , CLINICAL TRIALS , DYSPLASIA , ETIOLOGY , EXTREMITIES , GENES , INACTIVATION , MEASUREMENT , MINERALIZATION , MOLECULES , MUTATIONS , PATHOPHYSIOLOGY , PERIPHERAL NEUROPATHY , PREDICTIONS , SKELETON , TIBIA , ULTRASONICS , VACCINES


Subject Categories : Medicine and Medical Research


Distribution Statement : APPROVED FOR PUBLIC RELEASE