Rinshō shinkeigaku = Clinical neurology
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Review
Diagnosis, disease notification, and management of rapid eye movement (REM) sleep behavior disorder.
Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by dream enactment behavior during REM sleep. It has been demonstrated that patients with idiopathic RBD are at a significantly increased risk of developing one of the α-synucleinopathies later in life, and this is called "phenoconversion". Although some physicians argue against disclosing information that could cause patients psychological stress, the patients also have a "right to know" about their own disease. ⋯ Clonazepam is the first choice of treatment for RBD associated with α-synucleinopathies. Since RBD is one of the premotor symptoms of α-synucleinopathies, and enables its early diagnosis, a combination of RBD and other examinations may contribute to the realization of a disease-modifying therapy. It is hoped that the early establishment of biomarkers could help predict the phenoconversion from RBD to α-synucleinopathies.
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Review Case Reports
A case of Brugada syndrome which developed status epilepticus.
A 35-year-old man showed a convulsive attack with consciousness loss and was suspected of having Brugada syndrome 6 months prior to admission to our hospital. At the initial examination, the patient showed conjugate deviation, followed by left limb convulsions and consciousness loss. He regained consciousness after 1 minute, though cardiac arrest from ventricular fibrillation was noted during an electroencephalography (EEG) examination. ⋯ After ICD, he has suffered no further convulsive attacks. Brugada syndrome is an inheritable cardiac disease causing sudden death by ventricular fibrillation. It is important to consider both epilepsy and arrhythmia in diagnosis of the seizures.
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Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. MSA patients show various phenotypes during the course of their illness including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. MSA is classified into the parkinsonian (MSA-P) or cerebellar (MSA-C) variant depending on the clinical motor phenotype at presentation. ⋯ Magnetic resonance imaging can show progressive cerebral atrophy in longstanding cases. More recently, MSA patients presenting with frontotemporal dementia preceding the presence of motor and autonomic manifestations diagnostic of MSA have been reported. Novel diagnostic criteria based on an expanding concept of the clinical conditions and symptoms of MSA will be needed for the development of disease-modifying therapies and better management.
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Invasive and/or non-invasive mechanical ventilation are most important options of respiratory management in amyotrophic lateral sclerosis. ⋯ The present study provides factors related to decision-making process and survival after tracheostomy and help clinicians and family members to expand the knowledge about ventilation.
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Review Case Reports
[A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes].
A 24-year-old man was referred to our hospital emergency department due to a sudden onset of convulsions after drinking. On arrival he presented status epilepticus and was managed by artificial ventilation. He had no brainstem signs or meningeal irritation. ⋯ We suspected a mitochondrial disease because of a significant increase in the lactate/pyruvate ratio (24.1) in the spinal fluid, and identified A3243G mutations in mitochondrial DNA (heteroplasmy 20%) in peripheral white blood cells. We diagnosed his illness as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This is a rare case presenting an acute onset of rhabdomyolysis following alcohol intake related to A3243G mitochondrial mutation without preceding stroke-like episodes.