Camurati-Engelmann disease (CED) is an autosomal-dominant condition, initially described by Cockayne in 1920 1 . Camurati was the first to suggest the hereditary component in 1922, when he reported a rare symmetrical osteitis of lower limbs in a father and son and several others in a total of 4 generations 2 . Later, Engelmann reported a case with muscular wasting and important bone involvement 3 . The disease begins in an age span between 3 months and 50 years old, with higher prevalence in males. It is characterized by progressive cortical expansion, sclerosis, and symmetrical hyperostosis affecting the diaphyses of the long bones 4,5 . We describe a case of CED in a female patient with lower limb pain with progressive worsening and difficult diagnosis.A 37-year-old woman from Manaus, Brazil, was referred for investigation of a 5-year history of fatigue, headache, and pain in both legs, worsening over the preceding year, that had not responded to a variety of analgesics. The initial investigation included the following: normal blood count, erythrocyte sedimentation rate 15 mm/h (ESR; normal 0 to 20); rheumatoid factor 47 II/ml (normal 10 IU/ml), C-reactive protein 10.3 mg/dl (normal < 8 mg/dl), a negative antinuclear factor, alkaline phosphatase 111 U/l (normal 38-126 U/l); serum calcium was 8.7 mg/dl (normal 8.4-10.6), ionized calcium 1.42 (normal 1.2-1.6), urinary calcium 421 mg/24 h (normal 200), inorganic phosphorus 2.8 mg/dl (normal 2.5-4.5), parathyroid hormone 62 pg/ml (normal 7-53); and negative Bence-Jones proteins and normal urinary sediment.Radiographs of both lower limbs showed cortical thickening at the diaphyses, the medium third of the tibias, and distal third of the right and left middle femur causing obliteration of the medullary cavity ( Figure 1); these alterations were confirmed by computed tomography (CT; Figure 2). Radiographs of the forearms were normal. Bone scintigraphy revealed asymmetrical increased uptake in the tibias, femurs, and humerals ( Figure 3A, 3B). Biopsy of the tibias and right femur revealed typical osteoclasts, and osteoblasts distributed in a circle, compatible with hyperostosis and absence of malignancy. Examination revealed proximal muscle weakness in her lower limbs, with absence of muscular atrophy. Her gait was normal. The neurological and systemic examinations were normal and musculoskeletal examination confirmed pain at legs and knees, without arthritis. She had used nonsteroidal antiinflammatory drugs (NSAID), with improvement of clinical symptoms. Repeated laboratory tests were normal. Ophthalmological examination and audiometry were normal. Chest radiograph, head CT, and abdominal ultrasound scans were unremarkable. The clinical findings and characteristic radiological appearance led to the diagnosis of CED. It was decided to initiate prednisone 40 mg/day and maintain symptomatic medications. The molecular genetic investigation showed G653A; R218H mutations in exon-4 of the ß-TGF1 gene, located in chromosome 19q13, confirmed the diagnosis of CED. The symptom...
