ICCBH2017 Poster Presentations (1) (209 abstracts)
Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)
M Zulf Mughal 1 , Farhan Ali 1 , Rui Santos 1 , Grace Vassallo 1 , Siobhan West 1 , Elizabeth Howard 2 , Judith Eelloo 2 , Eileen Hupton 2 , Elizabeth Rowles 2 & Susan M Huson 2
1Royal Manchester Children’s Hospital, Manchester, UK; 2St Mary’s Hospital, Manchester, UK.
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 2–3% 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.
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