Lesões ósseas no diagnóstico de neurofibromatose

AUTOR(ES)
DATA DE PUBLICAÇÃO

2004

RESUMO

Neurofibromatosis (NF) or von Recklinghausen disease is an autosomal dominant inherited disorder frequently found in humans. The incidence accounts for one case per 3,000 inhabitants. Its diagnosis is often difficult, since it presents a great variety of clinical manifestations. In young children age, these manifestations may not be present because the disease has progressive and sistemic features. Radiological examinations by means of usual radiographs of large bone group as well as MRI examination may show some important alterations providing effective diagnosis, early treatment for the disease and genetic counseling. The association of neurofibromas with other neoplasias is frequent and the incidence of NF patients ranges from nearly four times than the general population. These patients must be diagnosed earlier and have a long-term follow-up, since the associated tumors and lesions can appear in any age. Radiological investigations of 166 patients referred by the Neurofibromatosis Center Service, were perfomed. The objective was to provide early diagnosis and to observe these patients folow-up. Usual radiographs of the vertebral bodies is a frequent disorder found in NF patients; this is not found in general population. They had usual radiographies of chest, spine, skull and upper and inferior limbs into two incidences. These revealded the spine as the most frequent disorder. Erosion in the posterior wall of the vertebral body is a frequent disorder in NF patients whereas in the general population, it is nost present. Considering it as a bone lesion may be an effective criteria for the diagnosis of the sisease. Therefore, considering it as a bone lesion,it is na effective criterion to diagnose NF. Some statistical data of radiological finding of these patients were not found in the literature; such as: deformity of the costal region (l9.1%), pectus excavatum (12%), mediastinal mass (7.1%), foramen increase (l8.9%), limb (member) bowing (5.1%), osteolytic lesions of the long bones (8.5%), growing disorders (5.1%), skull radioluscence (3.0%), deformity of the posterior and anterior walls of the vertebral bodies (Scalloping); (28%) and (25.9%), respectively.

ASSUNTO(S)

coluna vertebral neurofibromatose radiologia medica radiology osso e ossos/lesões traumatismos vertebrales spinal injuries radiologia neurofibromatosis spine radiography radiografia traumatismos da coluna vertebral radiographic diagnóstico neurofibromatoses huesos/lesiones bone and bones/injuries diagnostic

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