A Case of Idiopathic Scoliosis with Intraoperative Neurophysiological Monitoring Abnormalities Leading to the Diagnosis of Charcot-Marie-Tooth Disease 1B

The current case report describes the clinical and genetic characteristics of a 16-year-old female proband. She did not have any subjective neurological symptoms preoperatively and who was incidentally diagnosed due to abnormal intraoperative neurophysiological monitoring (IONM) using transcranial electrical stimulation motor evoked potentials (TES-MEP) and somatosensory evoked potentials (SEP) for idiopathic scoliosis, leading to the diagnosis of Charcot-Marie-Tooth disease (CMT) 1B. There was no similar disease in her family history. Nerve conduction velocity testing revealed decreased conduction velocity of the median nerve, and genetic testing indicated myelin protein zero (MPZ) mutation (c242A > G), leading to the diagnosis of demyelinating type CMT1B. The parents had no genetic mutation, and this was a case of de novo mutation. CMT1B is an important differential diagnosis because, similar to our case, there may not be any clinical symptoms. The disease was discovered during a careful evaluation of the patient's scoliosis and other complications. TES-MEP was more useful than SEP for IONM of scoliosis with CMT1B

Cerebral venous sinus thrombosis due to oral contraceptive use: Postmortem 3T-MRI and autopsy findings

AbstractCerebral venous sinus thrombosis (CVST) is an uncommon form of stroke, and mortality of the acute phase is high. We report the clinical, postmortem 3T-MRI, and autopsy features of a patient, 20-year-old Japanese woman, with CVST who died shortly after starting to use low-dose estrogen combined hormonal contraceptives (CHCs). A postmortem 3T-MRI study with our originally developed system revealed abnormal intensities suggestive of thrombi extending throughout the straight sinus and left sigmoid sinus. At autopsy, in accordance with the images, we performed careful preparations of the sinuses. Histological examination revealed an organizing white thrombus occupying the lumen of the left sigmoid sinus, and an acute, red thrombus in the lumen of the left transverse, straight, and tentorial sinuses, and vein of Galen, indicating that the thrombus had developed first in the left sigmoid sinus, then extended retrogradely to the more proximal portion of the sinus system, reaching the vein of Galen. The features of the present CVST patient appear to be informative, when encountering CHC users with neurological symptoms, even in those who begun to use low-dose estrogen CHCs only recently