Analyzing clinical and genetic aspects of axonal Charcot–Marie-Tooth disease

Charcot–Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal CMT type 2 (CMT2) neuropathy. CMT1 can be distinguished by assessing the median motor nerve conduction velocity as greater than 38 m/s. The main clinical features of axonal CMT2 neuropathy are distal muscle weakness and loss of sensory and areflexia. In addition, they showed unusual clinical features, including delayed development, hearing loss, pyramidal signs, vocal cord paralysis, optic atrophy, and abnormal pupillary reactions. Recently, customized treatments for genetic diseases have been developed, and pregnancy diagnosis can enable the birth of a normal child when the causative gene mutation is found in CMT2. Therefore, accurate diagnosis based on genotype/phenotypic correlations is becoming more important. In this review, we describe the latest findings on the phenotypic characteristics of axonal CMT2 neuropathy. We hope that this review will be useful for clinicians in regard to the diagnosis and treatment of CMT.

Vitamin B12 Deficiency with Extreme Hyperhomocysteinemia Presenting with a Brain Ischemic Lesion

No abstract available.

Endoscopic Ultrasound-Guided Transesophageal Drainage of a Mediastinal Pancreatic Pseudocyst / 대한췌담도학회지

Pancreatic pseudocyst is a common complication of acute/chronic pancreatitis, but extension of a pancreatic pseudocyst into the mediastinum is a rare occurrence. In this report, we described a case of a 62-year-old male with necrotizing pancreatitis presenting with chest pain and dysphagia caused by a mediastinal pseudocyst. Endoscopic retrograde pancreatography revealed pancreatic duct disruption and leaks. A mediastinal pseudocyst was successfully drained by endoscopic ultrasound (EUS)-guided transesophageal approach. Chest pain and dysphagia disappeared swiftly with drainage. Associated pancreatic pseudocyst at tail was managed by EUS-guided cystogastrostomy and pleural effusion was controlled by percutaneous drainage, respectively. In a follow-up period of 3 months, there has been no recurrence of symptoms and signs. Although currently EUS-guided transesophageal approach was done in the selected cases, this procedure is technically feasible, less invasive and more effective than surgical approach.

Azacitidine-Induced Lung Injury in a Patient with Myelodysplastic Syndrome / 대한내과학회지

In randomized phase 3 clinical trials azacitidine has been shown to prolong survival in patients with higher-risk myelodysplastic syndrome (MDS). Therefore, azacitidine therapy should be considered for treating MDS patients with higher-risk disease. A 78-year-old male was administered the first cycle of azacitidine treatment for higher-risk MDS. On day three of chemotherapy he complained of fever and dyspnea, and radiographic findings revealed bilateral perihilar-peribronchial infiltration and a small amount of pleural effusion. Considering the possibility of pneumonia, intravenous broad-spectrum antibiotics were administered and azacitidine therapy was discontinued. Upon improvement of the patient's subjective symptoms and radiographic abnormalities, azacitidine therapy was resumed. However, fever and dyspnea developed again upon recommencement of azacitidine therapy. A diagnosis was made of azacitidine-induced lung injury and corticosteroid treatment was administered. Although lung injury is a rare complication induced by azacitidine, physicians should be aware of this life-threatening side effect.