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Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

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European Journal of Pediatrics Aims and scope Submit manuscript

An Erratum to this article was published on 06 May 2017

Abstract

A strong relationship between congenital pseudarthrosis of the tibia (CPT) and neurofibromatosis type 1 (NF1) has been suggested, but prevalence varies widely throughout the literature and the criteria used for diagnosis are very heterogeneous. Literature focus is mainly on treatment and no specific review on the prevalence of NF1 has been published. Based on our own observations, we hypothesized the prevalence of NF1 in patients with CPT to be higher than what is previously accepted. We conducted a comprehensive literature review on this topic and compared results with our study population. Twenty-one out of twenty-five patients in the study population matched the NIH diagnostic criteria for NF1 (84.0 %, CI95 = 69.6–98.4 %). These results are higher than the prevalence reported in the literature (55.4 %, CI95 = 50.4–60.4 %).

Conclusions: The prevalence of NF1 in patients with CPT might be higher than what is reported until now because the criteria of NF1 generally appear only after the diagnosis of CPT. We propose a repeat meticulous examination and a multidisciplinary approach with a clinical genetic counseling in all CPT patients.

What is Known:

• Congenital pseudarthrosis of the tibia and neurofibromatosis type 1 are closely related.

• Literature focus is mainly on treatment and little epidemiologic research is available.

What is New:

• Prevalence of neurofibromatosis type 1 in patient with congenital pseudarthrosis of the tibia might be higher than what is reported until now.

• A multidisciplinary approach with meticulous clinical examination and genetic counseling might lead to an earlier diagnosis of neurofibromatosis type 1 in patients with congenital pseudarthrosis of the tibia.

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Abbreviations

CI95 :

95 % confidence interval

CPT:

Congenital pseudarthrosis of the tibia

EPOS:

European Paediatric Orthopaedic Society

NF1:

Neurofibromatosis type 1

NIH:

National Institutes of Health

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Authors’ contributions

Kjell Van Royen and Armand Laumen conducted the literature search on the prevalence of NF1 in CPT, analyzed the data, and wrote the manuscript.

Hilde Brems and Eric Legius designed the study and conducted the literature search on NF1 and internal review.

Johan Lammens performed the data acquisition and conducted the literature search on CPT and internal review.

Author information

Authors and Affiliations

  1. Department of Orthopaedics and Traumatology, UZ Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium

    Van Royen Kjell & Laumen Armand

  2. Department of Human Genetics, KU Leuven, UZ Leuven, Leuven, Belgium

    Brems Hilde & Legius Eric

  3. Department of Orthopaedics, UZ Leuven, Leuven, Belgium

    Lammens Johan

Authors
  1. Van Royen Kjell
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  2. Brems Hilde
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Corresponding author

Correspondence to Van Royen Kjell.

Ethics declarations

We confirm that this work is original and has not been published elsewhere nor it is currently under consideration for publication elsewhere. All authors contributed to the manuscript in a significant amount and approved the final version of the manuscript. No funding was received. For this type of retrospective study, formal consent is not required.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Communicated by Beat Steinmann

Hilde Brems, Eric Legius, Johan Lammens and Armand Laumen

An erratum to this article is available at http://dx.doi.org/10.1007/s00431-017-2921-0.

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Kjell, V.R., Hilde, B., Eric, L. et al. Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia. Eur J Pediatr 175, 1193–1198 (2016). https://doi.org/10.1007/s00431-016-2757-z

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  • DOI: https://doi.org/10.1007/s00431-016-2757-z

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