Doença de Camurati-Engelmann: relato de caso com acometimento ósseo grave

Abstract

Neste artigo é descrito um caso da doença de Camurati-Engelmann em um paciente do sexo masculino, com 32 anos de idade, que foi submetido a avaliação radiológica por radiografias simples, cintilografia ós-sea e tomografia computadorizada, as quais mostraram achados clássicos dessa síndrome e alguns aspectos incomuns vistos somente em casos com acometimento ósseo grave. Unitermos: Doença de Camurati-Engelmann; Displasia diafisária progressiva.Camurati-Engelmann disease: a case report of a patient with severe bone involvement. We report a case of Camurati-Engelmann disease in a 32-year-old male patient. This patient was submitted to radiological evaluation including plain X-rays, bone scintigraphy and computed tomography, which showed typical findings of this syndrome and uncommon aspects seen only in cases of severe bone involvement.

Imaging aspects of Camurati-Engelmann disease

“…2,3 Intramembranous ossification occurs in the cortex of tubular bones (such as femurs) and the flat bones of the skullcap, the upper facial bones, tympanic temporal bones, vomer and medial pterygoid plate. 4 The hereditary disorders related to this type of ossification are: generalized cortical hyperostosis (van Buchem's disease and variants), hereditary multiple diaphyseal sclerosis (Ribbing disease) and progressive diaphyseal dysplasia (Camurati-Engelmann's disease).…”

“…4 Although ErdheimChester disease is considered part of an acquired (and not inherited) syndrome that simulates sclerosing bone dysplasia, 4 it is also part of the differential diagnosis. 3 Eventually, the possibility of osteopetrosis could be suggested; however, this disorder derives from an endochondral ossification defect (which gives rise to bone marrow) 4 and is therefore an ossification condition of the medullary and not the cortical region.…”

“…Bone involvement in this disease begins in the tibial and femoral diaphyses, 3,5 in a bilateral and symmetrical manner 1,6 progressing to the other long bones with progressive bone deformity. In descending order of frequency, it affects the tibia, femur, fibula, humerus, ulna and radius 3,5 and, more rarely, the middle segment of the clavicles. 4,7 In severe cases, isolated sclerosis in the posterior region of the vertebral body can also be observed.…”

“…4,7 In severe cases, isolated sclerosis in the posterior region of the vertebral body can also be observed. 3,4 The metaphysis and epiphysis are typically not involved, as these regions are formed by endochondral ossification 4 (Figure 2), although during disease progression they may become involved secondarily. 5 In rare cases, sclerosis can be found at the base of the cranium 4 due to an endochondral ossification defect, suggesting the possibility of two forms of progressive diaphyseal dysplasia: a pure one, with exclusive disturbance in intramembranous ossification, and a mixed one, in which there is also the endochondral component.…”

“…5 In rare cases, sclerosis can be found at the base of the cranium 4 due to an endochondral ossification defect, suggesting the possibility of two forms of progressive diaphyseal dysplasia: a pure one, with exclusive disturbance in intramembranous ossification, and a mixed one, in which there is also the endochondral component. 3 Cranial nerve palsy may develop in such cases. Hearing loss occurs in 18% of cases and may be conductive, through fixation of the staples in the oval window, mixed or sensorineural, due to stenosis of the internal auditory meatus.…”