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Bone Abstracts (2017) 6 P203 | DOI: 10.1530/boneabs.6.P203

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.

CaseAge and genderPresentationRadiographic findingsSafeguarding referralSafeguarding investigationsRemoved from parentsFamily history of NF1
120M; FHard lump above the right lateral malleolusFracture of the distal right fibula with pseudoarthrosisYesNoNoYes
27M; FAnterolateral bowing of the right lower legAnterolateral bowing of the right distal tibia with fracture and pseudoarthrosisYesUndertakenYesNo
33M; FBilateral bowing of the lower legs from birth Pain when left leg movedFracture of the left distal tibia with pseudoarthrosis Anterolateral bowing of the right tibia & fibula, i.e. bilateral CTP YesUndertakenYesNo
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.

Volume 6

8th International Conference on Children's Bone Health


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