Pseudarthrosis of the Tibia and Fibula in an Adolescent with Neurofibromatosis Type 1
Keywords:
neurofibromatosis, pseudarthrosisAbstract
Introduction: Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is caused by mutations in the tumor suppressor gene neurofibromin 1 (17q11.2) and rarely by 17q11 microdeletion, only in 5%. It is a genetic disease of autosomal dominant inheritance, characterized by a multisystemic pattern of involvement and great phenotypic variability, in which the involvement of the bone system is included among the clinical manifestations, which can present from birth or be established in the first weeks of life and evolve spontaneously to congenital pseudarthrosis of the tibia (dysplastic bone segment). This is a rare disease (1 in 250,000 people), which suggests the possibility that the patient has NF1, since it affects approximately 50% of NF1 cases.
Objective: To warn about the presence of pseudoarthrosis of the tibia and fibula as a clinical manifestation that makes it necessary to suspect the diagnosis of neurofibromatosis type 1.
Clinical case: This is a 10-year-old adolescent, white skin color, and a resident of Alto Obrajes, Bolivia, with a history of NF1 in her mother, sister, and maternal great-grandmother. Anterolateral curvature was found from her birth. and shortening of her left lower limb, with pseudoarthrosis of the tibia and fibula.
Conclusions: It is transcendental to early diagnose neuroectodermal syndromes, such as NF1, in order to carry out good genetic counseling for the family.Downloads
References
1. A. Duat Rodríguez. Neurofibromatosis tipo 1. Pediatr Integral [Internet]. 2020 [citado 16 de enero de 2022];XXIV(6):334-41. Disponible en: https://www.pediatriaintegral.es/publicacion-2020-09/neurofibromatosis-tipo-1/
2. Felipe Torrentí Salom. La neurofibromatosis: una enfermedad dominante y recesiva [Internet]. El Blog de Genotipia. 2018 [citado 16 de enero de 2022]. Disponible en: https://genotipia.com/neurofibromatosis/
3. L. Chasi González, G. Malán Guzmán, F. Vallejo Cifuentes. Pseudoartrosis Congénita de Tibia en Neurofibromatosis Tipo 1: Reporte de Caso. | Revista Ecuatoriana de Ortopedia y Traumatología. Rev Ecu Ortop Trauma [Internet]. noviembre de 2019 [citado 16 de enero de 2022];8 Fasciculo 2:31-6. Disponible en: http://revistacientificaseot.com/index.php/revseot/article/view/95
4. Moreno SM, Blázquez BS, Lázaro CM, Carcavilla CB, Muñoz HG. Pseudoartrosis infantil de la tibia asociada a neurofibromatosis tipo 1. Presentación de un caso y revisión de la literatura. En: VII Congreso Virtual Hispanoamericano de Anatomía Patológica y I Congreso de Preparaciones Virtuales por Internet [Internet]. Hospital Universitario 12 de octubre, Madrid, España; 2005 [citado 16 de enero de 2022]. p. 18. Disponible en: http://www.conganat.org/7congreso/PDF/386.pdf
5. Luque Valenzuela M, Ayllón Barranco R, López Molina I, Meziyanne A, López Morcillo J. Displasia congénita de tibia: 12 años de seguimiento. Luque Val María Ayllón Barranco R López Molina Inmacul Meziyanne López Morcillo Jesús Displasia Congénita Tibia 12 Años Seguim En Rev Esp Cir Osteoartic 52 269 2017 37-40 [Internet]. 2017 [citado 27 de mayo de 2021]; Disponible en: https://roderic.uv.es/handle/10550/68786
6. Gómez M, Batista O. Molecular diagnosis as a strategy for differential diagnosis and at early ages of neurofibromatosis type 1 (NF1). Rev Médica Chile [Internet]. octubre de 2015 [citado 16 de enero de 2022];143(10):1320-30. Disponible en: http://www.scielo.cl/scielo.php?script=sci_abstract&pid=S0034-98872015001000011&lng=en&nrm=iso&tlng=en
7. Tessaris D, de Sanctis L. Approccio diagnostico-terapeutico della Sindrome di McCune-Albright. L’Endocrinologo [Internet]. 1 de julio de 2021 [citado 2 de febrero de 2022];22(1):48-51. Disponible en: https://doi.org/10.1007/s40619-021-00907-3
8. Xiaoyu Wang, Li Shi, Rui Zhang, Wenbo Wang, Feng Wang, Mengwei Wang, et al. Efficacy of the “Eiffel tower” double titanium elastic nailing in combined management of congenital pseudarthrosis of the tibia: preliminary outcomes of 17 cases with review of literature. BMC Musculoskelet Disord [Internet]. 28 de mayo de 2021 [citado 2 de febrero de 2022];22(1):490. Disponible en: https://doi.org/10.1186/s12891-021-04382-7
9. NF France Network, Bergqvist C, Servy A, Valeyrie-Allanore L, Ferkal S, Combemale P, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis [Internet]. diciembre de 2020 [citado 2 de febrero de 2022];15(1):37. Disponible en: https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1310-3
