RESUMO
The diseases that involve the proximal femoral epiphysis are an heterogeneous group with similar clinical characteristics, so it is important to establish a differential diagnosis to bring suitable management and genetic counseling. The present study includes 33 patients: eleven with multiple epiphyseal dysplasia (MED), five with spondylo-epiphyseal dysplasia (SED), twelve with unilateral Perthes disease (PD uni) and five with bilateral Perthes disease (PD bi). The clinical study showed that affected relatives and associated clinical manifestations were more frequent in the dysplastic patients. The somatometric profile of the 17 PD patients was within two standard deviations of the average, whereas the dysplastic patients showed short stature. In the radiological study all patients had one or both proximal femoral epiphysis affected. All the dysplastic patients had other irregular or flattened epiphysis, but only half of those with PD showed mild flattening or distal femoral epiphysis. Eight of 29 patients had a delay in bone maturity, and all patients had mild flattened vertebras. We think this study shows the importance of having sufficient clinic and radiologic criteria to establish the differential diagnosis in view of the heterogeneity of these entities.
Assuntos
Condrodisplasia Punctata/complicações , Cabeça do Fêmur , Doença de Legg-Calve-Perthes/complicações , Adolescente , Criança , Condrodisplasia Punctata/diagnóstico por imagem , Condrodisplasia Punctata/genética , Humanos , Doença de Legg-Calve-Perthes/diagnóstico por imagem , Doença de Legg-Calve-Perthes/genética , Linhagem , Fenótipo , RadiografiaRESUMO
An infant girl had the clinical and immunologic findings of congenital rubella syndrome but also had arthrogryposis multiplex and calcific epiphyseal stippling. Spastic quadriparesis developed, and both physical and behavioral development were slow. Increased spasticity of the legs at 5 1/2 years was related not to progressive rubella encephalomyelopathy but to spinal cord compression by abnormal cartilaginous tissue. The presence of a peroxisomal disorder was demonstrated by a greatly increased level of phytanic acid and slightly increased levels of hexacosanoate in serum and by reduced activity of peroxisomal dihydroxyacetone phosphate acyltransferase and a slightly increased ratio of cytosolic to peroxisomal catalase activity in cultured fibroblasts. A reduction in the number and size of peroxisomes was demonstrated in cultured fibroblasts, and a needle biopsy specimen of the liver also showed the peroxisomes to have a smaller diameter than usual. We recommend that any child with epiphyseal stippling be assessed for peroxisomal disease and that the potential for spinal cord compression by dysplastic bone or cartilage be recognized. The association of peroxisomal dysfunction with congenital rubella has not been described previously. The interaction between rubella virus infection and peroxisomal function may need further investigation.
Assuntos
Condrodisplasia Punctata/etiologia , Microcorpos/fisiologia , Síndrome da Rubéola Congênita/complicações , Rubéola (Sarampo Alemão)/complicações , Calcinose/diagnóstico por imagem , Calcinose/etiologia , Condrodisplasia Punctata/diagnóstico por imagem , Feminino , Humanos , Lactente , Fígado/patologia , Microcorpos/ultraestrutura , Radiografia , Compressão da Medula Espinal/etiologiaRESUMO
Several attempts have been made to classify constitutional diseases of ossification. The one from the Roman group is at present the most accepted. Based on histogenetic concepts and on conventional microscopic studies of our casuistics, we are proposing a new systematization of bone dysplasias considering the mechanisms that lead to the transformation of primitive bone tissue into adult bone tissue. Changes in bone histogenesis may take place at the following levels: 1. In the bones of connective ossification. 2. In the chondrocytic fertile cartilage. 3. In the bony trabeculae. 4. In the periosteum and endosteum. 5. In the bony fibrose tissue. Based on such changes, we classify bone dysplasias into: 1. Connective-dysplasias. 2. Chondro-dysplasias. 3. Trabecular-dysplasias. 4. Periosteo-endosteo-dysplasias. 5. Fibro-dysplasias. 6. Mixed types.