We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The patient displayed also bilateral winged scapula with limited abduction of upper arms and marked asymmetric atrophy of leg muscles shown by magnetic resonance imaging. Immunohistochemistry on the patient's… (More)
INTRODUCTION The thoracic outlet syndrome (TOS) is a rare complication of clavicular fracture, occurring in 0.5-9% of cases. In the literature from 1965 - 2010, 425 cases of TOS complicating a claviclular fracture were described. However, only 5 were observed after a surgical procedure of reduction and fixation. The causes of this complication were due to… (More)
Extensive bilateral cerebellar white matter signal change, with sparing of the overlying cortex, consistent with demyelination was seen in a 12-year-old boy who had suffered carbon monoxide poisoning 6 years previously. His youth at the time of exposure and the long delay between exposure and examination might account for this unusual finding.
Different genetic mutations underlying distinct pathogenic mechanisms have been identified as cause of muscle fibers degeneration and strength loss in limb girdle muscular dystrophies (LGMD). As a consequence, exercise tolerance is affected in patients with LGMD, either as a direct consequence of the loss of muscle fibers or secondary to the sedentary… (More)
Our aim was to verify the feasibility of volume rendering (VR) of high-resolution magnetic resonance (HR-MR) data sets of the labyrinth. We retrospectively reviewed the HR-MR data sets of 16 consecutive patients with no MR evidence of labyrinthine pathology. High-resolution MR data sets were obtained by means of a 3D T2-weighted FSE sequence with the use of… (More)