RESUMO
BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS: Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. RESULTS: We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. CONCLUSIONS: These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.
RESUMO
There are many causes of prolonged postoperative muscle weakness, including drugs, residual anesthetics, cerebrovascular events, electrolyte imbalance, hypothermia, and neuromuscular disease. Neuromuscular diseases are relatively rare, with the most common being myasthenia gravis and Lambert-Eaton myasthenic syndrome (LEMS). We report an unusual case in which a patient who was given a muscle relaxant during mediastinoscopy developed postoperative muscle weakness that was ultimately diagnosed as secondary to LEMS.
RESUMO
BACKGROUND/AIMS: Diagnosis of bile duct strictures as well as detection and localization of hepatolithiasis is important for an effective treatment of hepatolithiasis. For this purpose, endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) have been preferred as the diagnostic modalities of choice for hepatolithiasis. At present, magnetic resonance cholangiopancreatography (MRCP) is rapidly replacing ERCP. To determine the usefulness and limitation of MRCP for detecting hepatolithiasis and biliary strictures, we compared the result of MRCP with that of percutaneous transhepatic cholangioscopy (PTCS) as the standard reference. METHODS: Sixty-six patients with primary hepatolithiasis who underwent both MRCP and PTCS were enrolled. All patients underwent PTCS within 2 weeks of MRCP. The results of MRCP were reviewed by radiologists who were unaware of the clinical information about the location of hepatolithiasis and the presence of biliary strictures. RESULTS: The sensitivity and specificity of MRCP for detecting intrahepatic stones were 72.4 and 90%, respectively. The sensitivity of MRCP for depicting intrahepatic bile duct strictures was 64%. The overall agreement between MRCP and PTCS for intrahepatic stones showed a good reliability (kappa value=0.64, p<0.05). The agreement of MRCP for hepatolithiasis with intrahepatic bile duct strictures with reference to PTCS showed a moderate reliability (kappa value=0.47, p<0.05). Imaging findings such as pneumobilia and hepatic parenchymal atrophy were related to false positive results in location of hepatolithiasis (p<0.05). CONCLUSIONS: MRCP has a good agreement rate in evaluation of intrahepatic stones and a moderate agreement rate in intrahepatic strictures, compared to PTCS.
