Doença de Camurati-Engelmann: manifestações típicas de uma doença rara

Abstract

Camurati-Engelmann Disease or progressive diaphyseal dysplasia is a rare disease, characterized by limb pain and muscular weakness, and cortical thickening of the diaphyses of long bones. The authors report a case of a male patient with manifestations since his childhood, whose diagnosis was established later on, when he was an adult, with the disease already progressed, and when the same manifestations began in one of his sons. The importance of the differential diagnosis regarding other diseases concurrent with osteosclerotic and/or hyperostotic changes is emphasized here. Description of its evolution along the years is rarely found in the literature.

Imaging aspects of Camurati-Engelmann disease

“…5 In bone scintigraphy with 99m Tc-MDP, heterogeneous abnormal uptake can be seen in the affected bones 3 in a bilateral and symmetrical manner 1,6 similarly to the findings of our study 3 (Figure 3). …”

“…MRI helps to improve the evaluation of the neuromuscular component in these cases and complements the radiographic images in the analysis of bone changes, in relation to their inflammatory activity and cortical thickening. Despite this being a rare disease whose treatment has been palliative through use of corticosteroids, 2 bisphosphonates (with controversial usage), 5 decompressive surgeries 2 and physiotherapy, 5 doctors must be aware of this possibility in order to avoid late diagnoses and to offer early multidisciplinary support to improve the quality of life of these patients.…”

“…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.…”

“…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. 7 Unlike other bone metabolism disorders, in Camurati-Engelman disease low-impact fractures are rare, and there is controversy about neuromuscular impairment 1,5 probably due to the wide variety of phenotypic expressions described. 8 MRI is as effective as computerized tomography for demonstrating the hyperostotic bone, and the compressive effect on specific cranial nerves (mainly II, VII and VIII) can be characterized well.…”