Bone Manifestations of Neurofibromatosis Type 1

Diallo, Ibrahima Dokal; Houssaini, Z. Iraqi; Tantaoui, Mehdi; Traore, Wend-Yam Mohamed; Onka, Behyamet; Haddad, Siham El; Chat, Latifa; Allali, Nazik

doi:10.1177/2333794x221101771

Cited by 2 publications

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References 5 publications

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“…Ген NF1 демонстрирует широкий диапазон вариабельности экспрессии и полную пенетрантность даже в пределах одной семьи. Несмотря на то, что нейрофиброматоз I типа наследуется по аутосомно-доминантному типу, в 20-50 % случаев развитие заболевания вызвано мутациями denovo [4][5][6].…”

Section: оригинальные статьиunclassified

“…Использование данных методов показало свою эффективность и в лечении детей с NF1, хотя при данном заболевании риск возникновения осложнений, связанных с консолидацией донорской и реципиентной костей, велик. Поэтому у детей с данной патологией применение микрохирургических методов, по данным литературы, пока еще ограничено и в литературе в основном встречается в виде описания немногочисленных клинических примеров [6,14,22].…”

Section: оригинальные статьиunclassified

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Microsurgical autologous ffbula transfer as an optimal method for closure of extensive bone defects in children with neuroffbromatosis

Golyana,

Tikhonenko,

Galkina

et al. 2023

jour

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Introduction Pseudarthrosis and bone defects are the most common consequence of neurofibromatosis type I in children, a rare hereditary disease. Destruction of bone tissue leads to severe deformities and impaired function of the limbs. Disability in such patients may reach 70 %. Surgical treatment of children with this pathology is long, laborious and multi-stage. Traditional orthopaedic methods for managing bone defects are often ineffective. The development of microsurgical methods enables to perform bone transfer of blood-supplied bone autografts.Purpose To prove the effectiveness of using microsurgical autologous transfer of the vascularized fibula for plastic surgery of bone defects in children with neurofibromatosis type I.Materials and methods A retrospective monocenter study included 27 pediatric patients who underwent reconstruction of bone defects with a vascularized fibular autograft from 2011 to 2021. The etiology of the bone defect in all patients was neurofibromatosis type I. A fibula graft was used to reconstruct 8 tibiae and 19 forearms. Bone defects averaged 12 cm. Median follow-up was 60 months.Results The fibula graft survival rate was 100 %. In 5 cases, nonunion of the proximal part of the fibula and the recipient zone was obtained which required iliac crest grafting. The overall rate of good and excellent results was 74 %. The average time to consolidation was 3 months. Discussion According to the literature, the use of autografting of vascularized bone fragments is a ather limited procedure in children with neurofibromatosis type I as it is associated with an increased risk of complications. Due to the restoration of blood flow in the transferred vascularized autograft, it retains its viability and the possibility of bone tissue remodeling.Conclusion Microsurgical autologous transfer of a vascularised fragment of the fibula is an effective and at times indispensable method of bone plasty in long bone defects in children with type 1 neurofibromatosis. Bone defects larger than 5 cm are an indication for free autologous transfer of a vascularized fragment of the fibula. This method, used in combination with traditional orthopedic methods for the treatment of children, allows obtaining good anatomical and functional results.

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Section: оригинальные статьиunclassified

Microsurgical autologous ffbula transfer as an optimal method for closure of extensive bone defects in children with neuroffbromatosis

Golyana,

Tikhonenko,

Galkina

et al. 2023

jour

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Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1

Gamirova,

Zabirova,

Safina

et al. 2024

Ross. vestn. perinatol. pediatr.

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The article presents an analysis of the pathogenesis of neurofibromatosis type 1, the mechanism of damage to the central nervous system. It analyzes the general clinical symptoms of neurofibromatosis type 1, its diagnostic criteria, describes the specifics of cognitive development in this disease with an emphasis on behavioral and autism spectrum disorders. The authors describe a clinical case of neurofibromatosis type 1 (a boy, 6 years and 10 months), in which, along with coffee-colored skin spots, subcutaneous fibromas, one of the first symptoms of the disease was also a congenital false joint of the bones of the left leg. Absence of speech development and autism spectrum disorders are key problems in the cognitive status of the child.

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Bone Manifestations of Neurofibromatosis Type 1

Abstract: Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.

Cited by 2 publications

References 5 publications

Microsurgical autologous ffbula transfer as an optimal method for closure of extensive bone defects in children with neuroffbromatosis

Microsurgical autologous ffbula transfer as an optimal method for closure of extensive bone defects in children with neuroffbromatosis

Congenital pseudarthrosis of the leg bones and autistic spectrum disorder in a patient with neurofibromatosis type 1

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