RESUMO
Rationale: Osseous dysplasia (OD) is a benign fibro-osseous lesion classified as periapical, focal or florid with some rare cases being diagnosed as expansive OD. Patient Concerns: A 43-year-old female presented with gross mandible expansion and tooth displacement. Diagnosis: Imaging scans revealed an expansive lesion in the anterior mandible, with varying opacity in the central region, and other smaller lesions in the region of teeth #37 and #47, consistent with expansive OD. Treatment: Surgical resection followed by immediate reconstruction of the mandibular defect using a microvascularized fibular graft. Outcomes: The patient had a 4-year follow-up, with adequate mandibular bone continuity, mastication, swallowing, and speaking ability reestablished. Take-away Lessons: Immediate reconstruction after large surgical resection is required as tissues retract over time, hampering late reconstructions. Microvascularized fibular graft aims at adequate and functional rehabilitation with osseointegrated implants and long-term follow-up is needed as florid OD may evolve into expansive OD.
RESUMO
RESUMEN Introducción: La osteogénesis imperfecta es un trastorno hereditario del tejido conectivo que condiciona fragilidad ósea y susceptibilidad a fracturas. Es una enfermedad sistémica con posibilidad de afectación esquelética y extraesquelética. Su cuidado es, por tanto, multidisciplinar y el papel de los profesionales de la pediatría es primordial. Objetivo: Aportar información sobre las características y el cuidado de la osteogénesis imperfecta, a través de la descripción de un caso clínico. Pesentación del caso: Niño de 2 años y 3 meses de edad, de origen argelino y de padres consanguíneos. Fue diagnosticado en su país de origen de una forma recesiva de osteogénesis imperfecta en los primeros meses de vida por fracturas a repetición. Conclusiones: La manipulación cuidadosa, el control del dolor y el apoyo emocional, entre otros, son fundamentales. Los profesionales de pediatría, como agentes activos en estos casos, deben conocer las peculiaridades del cuidado de pacientes con osteogénesis imperfecta para evitar y detectar complicaciones asociadas. En las familias el conocimiento conlleva además, una toma de conciencia sanitaria acerca de esta enfermedad.
ABSTRACT Introduction: Osteogenesis imperfecta is an hereditary disorder of the connective tissue that conditions to bone fragility and sensitivity to fractures. It is a systemic disease with a possibility of skeletic and extraskeletic affectations. Therefore, its care is multidisciplinary and the role of Pediatrics professionals is paramount. Objective: Contribute with information on the characteristics and the care of osteogenesis imperfecta through the description of a clinical case. Case presentation: Boy of 2 years and 3 months old, from Algeria and with parents by blood. He was diagnosed in his country with a recesive osteogenesis imperfecta in the first months of life due to repeated fractures. Conclusions: Careful handling, pain control and emotional support, among others, are important. Pediatric professionals as active agents in these cases should know the peculiarities of the care of patients with osteogenesis imperfecta to avoid and detect asssociated complications. In the families, knowledge on this also entails sanitary awareness on the disease.