A child with the Tel Hashomer camptodactyly syndrome is reported. Although muscle weakness and hypoplasia are reported features of this syndrome, further investigation of muscle function has not previously been carried out. We report a raised creatine kinase and an abnormal electromyogram and muscle biopsy in this syndrome. The histology of the muscle biopsy shows a wide range fibre diameter in...

MELAS syndrome is a mitochondrial disorder with progressive nature, because adequate treatment is not available. Diagnosis of this mitochondrial disorder depends initially on clinical suspicion, which is strengthened by additional metabolic evidence of impaired oxidative metabolism such as high serum or C.S.F. lactate levels and confirmed by demonstration of mitochondrial abnormalities-in ...

Objective. The idiopathic inflammatory myopathies (IIMs) are chronic systemic connective tissue diseases. The muscle biopsy is a definitive diagnostic tool but blind biopsy sometimes produces to negative results. Magnetic resonance imaging (MRI) as a tool for early diagnosis, guidance for biopsy, assessing extent of lesions and monitoring therapy in IIMs has been reported. The aim of this study...

Advances in histological, biochemical, physiological and molecular biological assays, as well as in microscopy and image analysis have allowed multiple analyses in muscle tissue (1-5). Muscle biopsy is invaluable in providing a definitive diagnosis of a wide range of myopathies (muscular dystrophies, glycogen storage diseases, inflammatory myopathies and congenital myopathies) and denervating d...

On hospitalization, the clinical examination of a 64-year-old female with polyarthralgia and an elevated fever revealed leukocytosis, an increased lactic acid dehydrogenase level, and a positivity for the C-reactive protein. Subsequently, the patient developed muscular pain in the lower limbs. Thus, a muscle biopsy was performed and B-cells with atypia were detected in the arteriolar lumen with...

Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red O stain and by electron microscopical examination. We suggest that needle biopsy of muscle may be a quick and safe aid t...

Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red 0 stain and by electron microscopical examination. We suggest that needle biopsy of muscle may be a quick and safe aid t...

Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle b...

Chondrosarcoma is the third most common primary bone malignancy, but its thoracic presentation unusual compared to pelvis and extremities. Chest wall chondrosarcomas are difficult be surgically resected due their proximity neurovascular structures. We report case of a 48-year-old man presenting with history chest bulging. Computed tomography showed lesion approximately 12 cm in sagittal axis ad...

Dermatomyositis, a connective tissue disorder, is an idiopathic inflammatory myopathy characterised by skin manifestation. The diagnosis of dermatomyositis based on rashes the skin, progressive muscle weakness, elevated serum enzymes, abnormal electromyogram, and findings biopsy. Hereby presenting this rare case 57-year-old female with all typical clinical interstitial lung disease.