Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 23% of children with NF1. The distal end of the fibula and other long bones can also be affected.
Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI.
Presenting problem: The table summarises patient characteristics, presenting problem, safeguarding assessment and action taken by social services. Café-au-lait lesions were present in all 3 patients. The diagnosis of NF1 was confirmed by genetic testing in all patients.
Discussion: Carefully taken family history, thorough clinical examination and awareness of classical radiological features of CTP would have avoided unnecessary safeguarding assessment/investigations in these patients, and their temporary removal from parents (Cases 3 and 4).
Conclusion: Clinical and radiological features of congenital tibial & fibular pseudarthrosis, associated with NF1, may be confused with NAI.
|Case||Age and gender||Presentation||Radiographic findings||Safeguarding referral||Safeguarding investigations||Removed from parents||Family history of NF1|
|1||20M; F||Hard lump above the right lateral malleolus||Fracture of the distal right fibula with pseudoarthrosis||Yes||No||No||Yes|
|2||7M; F||Anterolateral bowing of the right lower leg||Anterolateral bowing of the right distal tibia with fracture and pseudoarthrosis||Yes||Undertaken||Yes||No|
|3||3M; F||Bilateral bowing of the lower legs from birth Pain when left leg moved||Fracture of the left distal tibia with pseudoarthrosis Anterolateral bowing of the right tibia & fibula, i.e. bilateral CTP||Yes||Undertaken||Yes||No|
|Legend: M, months; F, female; Safeguarding referral, referral to social services and paediatric assessment; Safeguarding investigations, full radiological skeletal survey, CT head scan and fundoscopy; removed from parents, temporarily removed from parents into foster care or placed with a relative.|
Disclosure: The authors declared no competing interests.