Central giant cell lesions with an unusual behavior in patient with Noonan syndrome: A case report with 8-year follow-up

Gleysson Matias De Assis,Lucas Melo Da Costa,Márcia Cristina Da Costa Miguel,Marcelo Leite Machado Da Silveira,José Wittor De Macêdo Santos,Sérgio Ricardo Fernandes De Araújo,Adriano Rocha Germano,Humberto Pereira Chaves Neto

doi:10.33448/rsd-v10i1.11563

Gleysson Matias De Assis, Lucas Melo Da Costa + Show 6 more

Open Access

https://doi.org/10.33448/rsd-v10i1.11563

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Abstract

This study describes a patient with Noonan syndrome affected by multiple Central Giant Cell Lesions (CGCL) in jaws. The lesions presented an unusual behavior since there was no regression size after puberty. The syndrome was diagnosed by collecting clinical information, represented by ocular hypertelorism, low insertion of ears, pulmonary stenosis, cryptorchidism, cardiac abnormalities, short stature, multiple CGCL in the jaws, and blood analysis that found a mutation of the PTPN11 gene. The treatment consisted of systemic calcitonin for a period of 14 months and three surgical procedures at distinct moments. The patient is currently with 20 years and in the eighth-year of follow-up. Although he presented an improvement in deformity, radiological findings showed remodeling without resolution of mandibular injuries, making it clear that injuries will did not always regress after puberty and not confirm previously publications in the literature. We therefore advocate a larger time of follow-up before patient discharge in these cases.

Highlights

Central Giant Cell Lesions (CGCL) of jaws are usually unifocal, and the occurrence of multifocal lesions is extremely rare and usually associated with systemic diseases or syndromes (Edwards et al, 2005; Moghadam, Lotfi, Moghadam, 2013; Sandhya et al, 2016)
The patient had a genetic report of Gorlin Goltz Syndrome, alterations that would prove the genetic report were researched with no positive findings
CGCL is a rare intraosseous lesion, which represents less than 7% of all benign lesions of gnathic bones; which highlights the importance of such report

Summary

Introduction

CGCL of jaws are usually unifocal, and the occurrence of multifocal lesions is extremely rare and usually associated with systemic diseases or syndromes (Edwards et al, 2005; Moghadam, Lotfi, Moghadam, 2013; Sandhya et al, 2016). First described by Noonan and Ehmkel in 1963, is a dominant autosomal disorder derived from mutation in the PTPN11 gene, responsible for the control of cell growth, differentiation, migration and apoptosis (Noonan & Ehmke, 1963; Feng, 1999) Patients with this syndrome have phenotypic features such as multiple CGCL, short stature, learning difficulties, hypertelorism, prominent ears, cryptorchidism and cardio-pulmonary alterations (Cohen & Gorlin, 1991). The presence of lesions in syndromic cases represent a challenge in treatment, since they affect both jaws bilaterally, expansively and in large areas, often requiring a combination of therapies for manage lesions and prevent recurrences (Jerkins et al, 2016; Chrcanovic, Gomes, Gomez, 2018; Chrcanovic et al, 2019) It is seen stagnation of lesions and even regression after the pubertal period (Noonan & Ehmke, 1963; Cohen & Gorlin, 1991). The case described covers the whole story, from diagnosis up to clinical and surgical procedures in a patient with Noonan syndrome with large CGCL in both jaws that did not stabilize their expansion after the end of pubertal growth

Methodology

Case report

Discussion

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Final Considerations