RESUMO
CASE: A 40-year-old Colombian woman presented with a 7-year history of progressive lower-limb pain. Sclerosis of the diaphyseal tibia and femur was observed in her latest x-ray images. A narrowing of the medullary canal is observed in Camurati-Engelmann disease (CED), a rare and progressive diaphyseal dysplasia that was confirmed in this patient by genetic testing. Medical treatment was unsuccessful; thus, surgical treatment consisted of decompression by drilling of the medullary canal was performed, achieving successful pain release. CONCLUSION: Surgical treatment should be considered for patients with CED when the medical treatment is unsuccessful because doing so reduces bone overgrowth, leading to pain relief.
Assuntos
Síndrome de Camurati-Engelmann , Adulto , Síndrome de Camurati-Engelmann/diagnóstico por imagem , Síndrome de Camurati-Engelmann/genética , Síndrome de Camurati-Engelmann/cirurgia , Feminino , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Humanos , Extremidade InferiorAssuntos
Síndrome de Camurati-Engelmann/diagnóstico por imagem , Adulto , Osso Cortical/diagnóstico por imagem , Diáfises/diagnóstico por imagem , Extremidades/diagnóstico por imagem , Feminino , Fêmur/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Radiografia , Cintilografia , Crânio/diagnóstico por imagemAssuntos
Humanos , Feminino , Adulto , Síndrome de Camurati-Engelmann/diagnóstico por imagem , Crânio/diagnóstico por imagem , Imageamento por Ressonância Magnética , Radiografia , Cintilografia , Diáfises/diagnóstico por imagem , Extremidades/diagnóstico por imagem , Fêmur/diagnóstico por imagem , Osso Cortical/diagnóstico por imagemRESUMO
Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and Camurati-Engelmann disease, the latter being extremely rare. We present two cases of benign form of osteopetrosis (Albers-Schulenburg's disease), a patient of 11 years old and another one of 48 years old, both male, and a patient of 28 years old, female, with Camurati-Engelmann's disease. The facial palsy was a manifestation in two of the patients. We discuss some aspects about the clinical manifestations, radiological findings, as well as differential diagnostic and therapy in view of the complications of the diseases.
Assuntos
Síndrome de Camurati-Engelmann/diagnóstico por imagem , Osteopetrose/diagnóstico por imagem , Doenças Raras/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Adulto , Síndrome de Camurati-Engelmann/terapia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteopetrose/terapia , Doenças Raras/terapia , Tomografia Computadorizada por Raios XRESUMO
Se presenta la evolución a corto plazo de 2 casos de displasias diafisarias, uno de enfermedad de Ribbing y el otro de Camurati-Engelman, tratados con pamidronato disódico, por vía oral. El diagnóstico se verificó por el cuadro clínico, bioquímico y radiológico, este último mostrando el típico engrosamiento de las corticales diafisarias. Aunque tratándose de patologías condensantes, la medicación se administró porque ambos casos presentaban recambio óseo acelerado, evidenciado por los marcadores bioquímicos del metabolismo fosfo-cálcico y la hipercaptación en la centellografía esquelética. El bisfosfonato produjo mejorías clínicas, reduciendo el dolor óseo, mejorándo la deambulación de las pacientes y normalizando la actividad metabólica. Se consideran a estos efectos como francamente positivos en estas displasias, carentes de tratamiento específico. (AU)
Assuntos
Idoso , Feminino , Adolescente , Difosfonatos/uso terapêutico , Osteocondrodisplasias/tratamento farmacológico , Síndrome de Camurati-Engelmann/tratamento farmacológico , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagem , Síndrome de Camurati-Engelmann/diagnóstico , Síndrome de Camurati-Engelmann/diagnóstico por imagem , Difosfonatos/administração & dosagemRESUMO
Five patients in early childhood had moderate to marked anemia and clinically demonstrable thick long bones of the extremities with radiologic features of diaphyseal dysplasia. Although the anemia was persistent and not responsive to hematinics, prednisolone was administered to two of these patients and caused remarkable improvement of the anemia in both. Roentgenologic examination carried out after 1 year of corticosteroid therapy in one patient and after 11 years in another showed considerable improvement of the bony changes. The clinical and radiologic examinations of these patients and their follow-up study suggest that they may constitute an unusual group of patients with diaphyseal dysplasia associated with anemia, hitherto not well defined.
Assuntos
Anemia/complicações , Síndrome de Camurati-Engelmann/complicações , Osteocondrodisplasias/complicações , Anemia/diagnóstico por imagem , Síndrome de Camurati-Engelmann/diagnóstico por imagem , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , RadiografiaRESUMO
Engelmann-Camurati's diseases is a progressive alteration of the diaphysis of the long bones, where the etiology is unknown. It appears clinically around the age of two years, showing weakness of the lower limbs and frequent falls; there is also weight loss and in older patients, the appearance of secondary sexual characteristics is retarded. The diagnosis is made clinically and corroborated with x-ray studies that show increased density and width of the diaphysis. We report a case in a female where the diagnosis was established at twelve years of age; she received steroid therapy for four years without improvement. The mechanism of action of the steroids is unknown, but it seems that they stimulate the formation of healthy bone with adequate remodelling. Physiotherapy is necessary in these patients and if there should be a compression of the cranial nerves, surgical management may be useful to relieve compression.