Electrodiagnostic evidence of phrenic nerve demyelination in Charcot-Marie-Tooth disease 1A.

OBJECTIVE: To determine whether neurophysiologic findings correlate to clinical respiratory signs or spirometric abnormalities in patients with hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease). DESIGN: A total of 11 patients with hereditary motor and sensory neuropathy type 1A, genetically identified, (age range, 10-58 yr) were included and studied by physical pulmonary examination, chest radiography, respiratory function tests, and bilateral transcutaneous phrenic nerve conduction. RESULTS: No patient complained of respiratory symptoms or revealed abnormal spirometric or maximal respiratory pressure data, despite a phrenic nerve conduction significantly slower (P < 0.0001; median conduction time, 18.6 msec; 95th percentile, 31.97 msec) than that recorded in the control group of healthy subjects (median, 6.05 msec; 95th percentile, 8.82 msec); the amplitudes of compound muscle action potentials were not statistically different from the controls. CONCLUSIONS: Our study confirms a dramatic phrenic nerve involvement in absence of clinical and laboratory evidence of diaphragmatic weakness; further studies and an adequate follow-up are necessary to discover whether the disease progress might encompass respiratory dysfunction at later stages.

Contrast-enhanced three-dimensional magnetic resonance angiography of atherosclerotic internal carotid stenosis as the noninvasive imaging modality in revascularization decision making.

BACKGROUND AND PURPOSE: In patients with severe internal carotid artery stenoses, thromboendarterectomy significantly reduces both ischemic stroke and the risk of more ischemic attacks. Digital subtraction angiography (DSA) is the accepted preoperative test to determine whether a high-grade stenosis is present and requires surgical therapy. However, DSA has a procedural risk of stroke between 0.7% and 1%. An accurate, noninvasive imaging protocol with no risk of severe complications would significantly increase the benefit of surgical treatment. The aims of the study were (1) to evaluate the diagnostic accuracy of contrast-enhanced magnetic resonance angiography (CEMRA) in detecting and grading internal carotid artery stenoses and (2) to assess the misclassification rate of vessels suitable for revascularization by CEMRA. METHODS: Ninety-two patients with sonographic evidence of neck vessel stenosis were enrolled in the study. All patients were submitted to CEMRA and DSA. CEMRA images were evaluated for the presence of mild, moderate, or severe stenosis and occlusion. RESULTS: Sensitivity, specificity, and diagnostic accuracy were 97%, 82%, and 92.5%, respectively. Agreement with DSA was optimal at kappa=0.87. The misclassification rate of CEMRA was 3.1% because of its tendency to overestimate the stenosis. CONCLUSIONS: The high diagnostic accuracy and limited misclassification rate suggest that CEMRA can be considered a powerful tool for the preoperative, noninvasive evaluation of atherosclerotic pathology of carotid arteries.