Masatoshi Ishizaki

症例は87歳男性．頻脈性不整脈のためシベンゾリン内服中であった．内服開始5年後，昼より増悪する眼瞼下垂，顔面筋，四肢筋力低下をみとめ紹介受診となった．抗アセチルコリン受容体抗体は陰性であったが，エドロホニウムテストが陽性であり，重症筋無力症が疑われた．3年後，眼瞼下垂，筋力低下増悪のため入院となった．低血糖，心伝導障害，腎機能障害をみとめ，シベンゾリン血中濃度は，著明高値（1,850 ng/ml）であった．筋力低下はシベンゾリン中毒による症状と考え，本剤を中止したところ神経症状は改善した．重症筋無力症の鑑別として，腎機能障害を合併する際は，シベンゾリン中毒を念頭に置く必要がある．

To clarify the current status of genetic counseling and health monitoring for symptomatic and asymptomatic female carriers of dystrophinopathy (Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)), we sent out questionnaires to 104 member institutions of The Japan's National Liaison Council for Clinical Sections of Medical Genetics, and responses were received from 51 institutions. Between April 2013 and March 2014, 57 carriers at 21 institutions received genetic counseling, and 37 carriers at 15 institutions underwent genetic screening for DMD/BMD mutations. At the 23 institutions that gave genetic counseling, 20 (87%) informed carriers of possible health problems, 14 (61%) informed carriers of cardiomyopathy and heart failure, and 14 (61%) advised carriers about regular medical checkups. Evidence based on accurate and up-to-date epidemiological studies of female carriers is needed and should be widely shared with the families, medical providers, and society.

We report 2 cases with cavernous sinus dural arteriovenous fistula (C-dAVF) presenting with headache as an initial symptom. A 70-year-old woman complained of acute persistent headache in the right temporal region. Another 74-year-old woman suffered from sudden and severe headache, developing from right-sided temporal throbbing to bilateral headache. Her condition was also complicated with cranial nerve deficits. These two patients were finally diagnosed as having C-dAVF based on the results of magnetic resonance angiography and cerebral angiography. It was difficult to make rapid diagnosis of C-dAVF in our patients, because they presented with headache alone but no typical symptoms of C-dAVF, such as proptosis, conjunctival injection or orbital bruit. C-dAVF should be considered as an important differential diagnosis in patients with headache.

We report here two cases (72-year-old woman, 77-year-old-woman) with perinuclear anti-neutrophil antibody (P-ANCA) positive microscopic polyarteritis nodosa (mPN). Both patients presented with generalized convulsion, consciousness disturbance and severe hypertension several days after the administration of high dose methylpredonisolone followed by oral predonisolone. CT brain scan showed hypodensity area on bilateral posterior lobes. MRI T2 weighted image and FLAIR image showed increased signal intensity on the occipital gray and white matter. Although diffusion weighted MRI disclosed slightly high signal intensity, apparent diffusion coefficient (ADC) value at the occipital gray and white matter remained normal or even elevated. These findings, which were consistent with vasogenic edema, lead us to diagnose them as suffering from reversible posterior leukoencephalopathy syndrome (RPLS). After the second administration of high dose methylpredonisolone, their symptoms and signs, together with the MRI findings, gradually improved. To our knowledge, this is the first report concerning RPLS in a patient with mPN.