RESUMO
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Assuntos
Humanos , Extremidades , Debilidade Muscular , Doenças Musculares , Mutação de Sentido Incorreto , Miopatias da Nemalina , Miopatias Congênitas Estruturais , Insuficiência Respiratória , Canal de Liberação de Cálcio do Receptor de Rianodina , TropomiosinaRESUMO
Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis has clinical features of psychiatric symptoms, loss of memory, seizure, dyskinesia and autonomic dysfunction. While Anti-NMDA receptor encephalitis was initially reported in young women with ovarian teratoma, viral infections can trigger anti-NMDA receptor encephalitis as well. Among them, herpes virus is the most common. We report a patient who developed the anti-NMDA receptor encephalitis 47 days after herpes virus encephalitis, which is, to our knowledge, the first case in Korea.
Assuntos
Feminino , Humanos , Encefalite Antirreceptor de N-Metil-D-Aspartato , Discinesias , Encefalite , Encefalite por Herpes Simples , Herpes Simples , Coreia (Geográfico) , Memória , Convulsões , Simplexvirus , TeratomaRESUMO
Ischemic stroke caused by spontaneous thrombosis of posterior inferior cerebellar artery (PICA) aneurysm has been rarely reported. A 52-year-old man presented with sudden headache, dizziness, and gait disturbance. Diffusion-weighted MRI showed acute infarction in left PICA territory. A saccular aneurysm with internal thrombus at the distal PICA was detected by CT angiography and conventional angiography. The thrombus resolved spontaneously at 2 months after stroke onset with aspirin medication. At that time, endovascular coiling was underwent successfully to prevent aneurysmal rupture.
Assuntos
Humanos , Pessoa de Meia-Idade , Aneurisma , Angiografia , Artérias , Aspirina , Infarto Cerebral , Tontura , Marcha , Cefaleia , Infarto , Imageamento por Ressonância Magnética , Pica , Ruptura , Acidente Vascular Cerebral , TromboseRESUMO
Many kinds of degenerative, psychiatric, and cerebrovascular diseases can mimic behavioral variant frontotemporal dementia. We present a 73-year-old woman who presented with apathy, inappropriate social behavior, and persecutory delusion. A neuropsychological examination revealed frontal/executive dysfunction with relative sparing of episodic memory. Magnetic resonance imaging and F-18 fluorodeoxyglucose positron-emission tomography produced normal findings. However, magnetic resonance angiography revealed severe right internal carotid stenosis. After carotid stenting, her behavioral symptoms disappeared and did not recur during an 18-month follow-up.