Prevalência de achados radiográficos da neurofibromatose tipo 1: estudo de 82 casos

Abstract

A neurofibromatose tipo 1 é uma das enfermidades genéticas mais comuns da espécie humana com padrão de herança autossômica dominante. As alterações radiológicas encontradas com maior freqüência são: escoliose, cifose, cifoescoliose, áreas de erosão óssea, crescimento anormal do osso, pseudo-artrose, meningocele, deformidade da parede posterior dos corpos vertebrais ("scalloping"), peito escavado, lesões osteolíticas nos ossos longos e alterações do sistema nervoso central. Os autores apresentam dados estatísticos dos achados radiográficos prevalentes em 82 pacientes com neurofibromatose tipo 1 acompanhados pelo Centro de Pesquisa e Atendimento em Neurofibromatose, de São José do Rio Preto, SP, um centro multidisciplinar de estudo e tratamento dos portadores da doença. Unitermos: Neurofibromatose. Neurofibromatose tipo 1. Radiologia. Facomatose. Prevalence of radiological findings in neurofibromatosis type 1 -a study of 82 patients. Neurofibromatosis type 1 is one of the most common genetic diseases with autosomic dominant inherit-ance pattern in humans. The main radiological findings are: scoliosis, kyphoscoliosis, bone erosions, abnormal osseous growth, pseudarthrosis, meningeal cysts, deformity of the posterior wall of the vertebral bodies ("scalloping"), pectus excavatum, osteolytic lesions in the long bones and central nervous system abnormalities. The authors present the statistical data from the analysis of the radiological findings in 82 patients with neurofibromatosis type 1 attending the "Centro de Pesquisa e Atendimento em Neurofibromatose", in São José do Rio Preto, SP, Brazil, a multidisciplinary center for the study and treatment of neurofibromatosis.

Neurofibromatose tipo 1: aspectos radiológicos do tórax

“…This abnormality may occur due to a primary dysplastic defect in bone formation or by erosion of an intercostal neurofibroma (8,10,14) . A "twisted-ribbon" appearance of the ribs is frequently reported (8)(9)(10)(11) . Data on the incidence of costal arch lesions were not found in the literature review.…”

“…The clinical signs are not always typical. Thus radiology may contribute to demonstrate typical findings of the disease such as sphenoid wing dysplasia, pseudoarthrosis and thinning of the long bones cor-tex (11) . Chest radiography is a complementary study that, in association with the clinical history and physical examination, is the main tool for evaluating thoracic alterations and is highly sensitive.…”

“…In NF patients, the most frequent skeletal abnormalities are observed in the spine and may directly affect the skeletal system due to mesodermal dysplasia (dural ectasia and bone dysplasia), or indirectly by secondary complications such as tumor compression, in particular of neurofibromas and meningoceles (10) . The commonest alterations include scoliosis, kyphoscoliosis, erosion of the posterior wall of vertebral bodies, erosion of the anterior wall of vertebral bodies, widening of intervertebral foramina, growth disorders, pseudoarthrosis, thinning of long bone cortices, bone cystic lesions, costal arch erosion, thinning of pedicles, sphenoid wing dysplasia, cranial osteolytic lesions, facial/mandibular deformities, subperiosteal bone proliferation, bone compression due to soft-tissue tumors (neurofibromas, dura mater dysplasias, intrathoracic meningocele) (11) .…”

“…Thoracic deformities, such as pectus excavatum, observed at physical examination in 31% to 50% of NF1 patients, represents a depression of the lower portion of the sternum, causing excavation of the anterior thoracic region (11) . Another thoracic deformity, caused by kyphoscoliosis, may result in evaluation distortions (11) .…”

Neurofibromatose tipo 1: mais comum e grave do que se imagina

“…A escoliose é a alteração óssea mais frequente na NF1, presente em cerca de 25% dos casos, e pode variar de lesões discretas até formas graves. A sua causa ainda não está completamente estabelecida, mas pode estar relacionada à displasia mesodérmica 24 . A macrocrania afeta grande parte dos indivíduos com NF1.…”