{"title":"[Proposals for the early diagnosis of late-onset hereditary ATTR amyloidosis in nonendemic areas in Japan].","authors":"Keiko Maruyama Saladini, Haruki Koike, Mitsuharu Ueda, Yoshiki Sekijima, Yukio Ando","doi":"10.5692/clinicalneurol.cn-002002","DOIUrl":"10.5692/clinicalneurol.cn-002002","url":null,"abstract":"<p><p>Late-onset hereditary ATTR (ATTRv) amyloidosis in nonendemic areas takes long periods of time to diagnose in many cases because the clinical symptoms are varied and nonspecific with the family history often unidentifiable. In recent years, disease-modifying therapies have been available for ATTRv amyloidosis, and early diagnosis is increasingly needed. The diagnosis of ATTRv amyloidosis usually requires histological confirmation of the amyloid deposition, although the amyloid detection rate largely depends on the experience, knowledge, and skill of the physician who performs the biopsy. It is important to consider ATTRv amyloidosis as a differential disease in idiopathic polyneuropathy. If ATTRv amyloidosis is strongly suspected, it is acceptable to perform TTR genetic testing prior to histological examination after a thorough differential diagnosis has been made.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"708-713"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Amaurosis fugax in Marfan syndrome with myxomatous degeneration].","authors":"Takeo Sato, Mari Satake, Hiroki Iitsuka, Masahiro Mimori, Tadashi Umehara, Chisen Takeuchi, Yasuyuki Iguchi","doi":"10.5692/clinicalneurol.cn-001987","DOIUrl":"10.5692/clinicalneurol.cn-001987","url":null,"abstract":"<p><p>A 28-year-old male presented with a sudden, transient visual impairment in the right eye. Brain MRI revealed no obvious ischemic lesions, and he was diagnosed with amaurosis fugax. Physical examination revealed characteristic features of Marfan syndrome, along with a family history of tall stature and valvular heart disease. Further investigation revealed: 1) an ascending aortic aneurysm, 2) a bicuspid aortic valve with fenestration and regurgitation, and 3) a mitral valve prolapse with regurgitation. Genetic testing identified a heterozygous variant c.6905G>A of FBN1, confirming the diagnosis of Marfan syndrome. Bentall operation and mitral valve replacement were performed, resulting in a favorable outcome. Pathological examination showed extensive myxomatous degeneration with thickening of the aortic and mitral valves, suggesting a potential source of embolism.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"719-724"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Acute internal carotid artery occlusion following administration of Andexanet alfa for the reversal of direct factor Xa inhibitors in patients with cerebral hemorrhage].","authors":"Sota Uemura, Junji Takasugi, Nobuyuki Ohara, Masamori Koyanagi, Tsuyoshi Ohta, Michi Kawamoto","doi":"10.5692/clinicalneurol.cn-001997","DOIUrl":"10.5692/clinicalneurol.cn-001997","url":null,"abstract":"<p><p>An 87-year-old woman receiving aspirin and apixaban with a history of large artery atherosclerotic stroke, and pulmonary embolism presented to the hospital for aphasia and right hemiplegia. A head CT scan showed 18-ml hematoma in the left thalamus. Low-dose Andexanet alfa was administered 84 minutes after the onset of stroke, and 10 hours and 24 minutes after the last dose of apixaban. Three hours later after admission, she had flaccid hemiplegia and became comatose. CT and CT angiography revealed occlusion of left internal carotid artery (ICA) and no evidence of hematoma expansion. Although repetitive mechanical thrombectomy resulted in recanalization (modified TICI 2b), carotid ultrasound revealed the occlusion of left ICA on next day. On day 7, she died of brain herniation following extensive cerebral infarction. It has been reported that some patients did experience thrombotic events after administration of Andexanet alfa. Our case illustrates that even large vessel occlusion might occur after intravenous injection of Andexanet alfa. Thus, careful follow-up, including cerebrovascular imaging, is required immediately after administration of Andexanet alfa.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"730-735"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Clinical features of five Japanese cases with leucine-rich glioma inactivated-1 (LGI1) antibody-positive encephalitis].","authors":"Naoki Moro, Masanori Nakajima, Hidenobu Shozawa, Kentaro Nagai, Ayumi Uchibori, Yaeko Ichikawa","doi":"10.5692/clinicalneurol.cn-001977","DOIUrl":"10.5692/clinicalneurol.cn-001977","url":null,"abstract":"<p><p>We studied the clinical features of five Japanese cases with leucine-rich glioma inactivated-1 (LGI1) antibody-positive encephalitis. Their symptoms included seizures, hallucinations, memory impairment, apathy, anxiety, agitation, faciobrachial dystonic seizure (FBDS), and ictal piloerection. All five patients showed hippocampal fluid attenuated inversion recovery (FLAIR) hyperintensity on brain MRI even though their cell counts of cerebrospinal fluid (CSF) were normal range. Four patients had syndrome of inappropriate secretion of antidiuretic hormone. One patient with FBDS also showed basal ganglia lesion on her brain MRI. Sodium channel blockers apparently lowered the frequency of FBDS. One patient had a thyroid cancer and underwent thyroidectomy. Substantial response to immunotherapy was seen in four out of five cases. At follow-up ≥2 years, all five patients had never relapsed. In cases of limbic encephalitis with normal CSF cell counts and hyponatremia, we should consider LGI1 antibody-positive encephalitis and conduct immunotherapy immediately.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"714-718"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[A case of young onset cerebral amyloid angiopathy associated with dural grafting].","authors":"Kengo Furutsuka, Aya Murakami, Haruka Iwamura, Kosuke Miyake, Akio Asai, Yusuke Yakushiji","doi":"10.5692/clinicalneurol.cn-002006","DOIUrl":"10.5692/clinicalneurol.cn-002006","url":null,"abstract":"<p><p>A 47-year-old man was admitted to our hospital because of sudden-onset motor aphasia and right hemiplegia. His past medical history was notable for left craniotomy and hematoma evacuation following a traumatic brain hemorrhage approximately 40 years earlier, for which dural grafting was performed. He also had a history of three lobar hemorrhages in the left hemisphere since the age of 42 years. Brain CT imaging revealed an acute left frontal lobar hemorrhage. His initial brain MRI conducted at our hospital demonstrated hemorrhagic findings with left hemisphere dominance, including acute and old lobar hemorrhage, cortical superficial siderosis, and cerebral microbleeds. Cerebrospinal fluid analyses demonstrated reduced levels of cerebral amyloid-β 42, and elevated total tau. His apolipoprotein E genotype was ε3/ε3. Whole-exome sequencing did not detect mutations in genes associated with Alzheimer's disease, including presenilin 1, presenilin 2, and amyloid precursor protein. These findings led to a clinical diagnosis of iatrogenic cerebral amyloid angiopathy (CAA) using recently proposed diagnostic criteria, which do not require pathological evaluation of the brain. Iatrogenic CAA should be considered as a cause of lobar hemorrhage in young patients, especially those with a past history of neurosurgery.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"736-741"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Clinical NeurologyPub Date : 2024-10-29Epub Date: 2024-10-26DOI: 10.5692/clinicalneurol.cn-001928
Hajime Yoshimura
{"title":"[Utility of EEG in neurological emergencies and critical care].","authors":"Hajime Yoshimura","doi":"10.5692/clinicalneurol.cn-001928","DOIUrl":"10.5692/clinicalneurol.cn-001928","url":null,"abstract":"<p><p>EEG is useful for evaluation of pathophysiology and prognostication of neurocritically ill patients, as it provides non-invasive, real-time monitoring of cerebral function. There have been recently a lot of advances in research on critical care EEG according to the American Clinical Neurophysiology Society's Standardized Critical Care EEG Terminology. Based on the latest knowledge, this review discusses clinical utilization of EEG in neurocritically ill patients, including critical care continuous EEG monitoring, and key points of interpretation of critical care EEG, classifying main purposes into three points: detection of electrographic and electroclinical seizures, consideration of special encephalopathies, and evaluation and prognostication of cerebral function. Neurologists should have fundamental ability to read and interpret critical care EEG and support treating physicians in terms of therapeutic strategy.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"699-707"},"PeriodicalIF":0.0,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[Anti-myelin oligodendrocyte glycoprotein (MOG) antibody-associated cortical encephalitis with low signal in subcortical white matter on MRI FLAIR imaging].","authors":"Ryoko Shibuya, Risako Furuta, Ryo Tanaka, Takamasa Nukui, Shunya Nakane, Yuji Nakatsuji","doi":"10.5692/clinicalneurol.cn-001981","DOIUrl":"10.5692/clinicalneurol.cn-001981","url":null,"abstract":"<p><p>A 32-year-old male presented with unilateral orbital-temporal pulsatile headache, followed by fever in the 38°C range and nausea. The patient experienced two episodes of transient dysarthria and tinnitus, each lasting several minutes. MRI revealed swelling of the left cerebral cortex, enhancement of the leptomeninges, dilation of the left middle cerebral artery, and subcortical FLAIR hypointensity. The clinical presentation and MRI findings raised suspicions of myelin oligodendrocyte glycoprotein (MOG) antibody-associated cortical encephalitis. After two courses of steroid pulse therapy, the patient's headache subsided, and there was a significant improvement in the swelling of the left cerebral cortex. Subsequently, serum MOG antibody positivity was confirmed. While unilateral cortical FLAIR hyperintensity and increased blood flow can be observed in various diseases, MOG antibody-associated cortical encephalitis is notably characterized by subcortical FLAIR hypointensity, a finding more frequently observed in this condition compared to other diseases. In this case, the findings were useful for early diagnosis and intervention.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"654-657"},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142093931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[A case of metronidazole-induced encephalopathy that is difficult to differentiate from Wernicke encephalopathy].","authors":"Takayuki Konishi, Junichi Uemura, Shinji Yamashita, Hitoshi Mori, Takeshi Inoue, Katsumi Kurokawa","doi":"10.5692/clinicalneurol.cn-001972","DOIUrl":"10.5692/clinicalneurol.cn-001972","url":null,"abstract":"<p><p>Herein, we present the case of a 76-year-old man diagnosed with an iliopsoas abscess 3 months prior and consequently administered metronidazole. The patient visited our facility complaining of difficulty in speaking and feeling unsteady when walking. Neurological findings showed dysarthria, nystagmus, and bilateral cerebellar ataxia. Head MRI-FLAIR demonstrated symmetrical hyperintensities in the bilateral cerebellar dentate nuclei, red nucleus, periaqueductal of the midbrain, periventricular third ventricle, and the corpus callosum. Although Wernicke's encephalopathy was among the differential diagnoses based on the imaging findings, the thiamine level was normal and improvement in symptoms and hyperintensity on FLAIR within 5 days of discontinuing metronidazole led to the diagnosis of metronidazole-induced encephalopathy. Although there were many similarities in the imaging findings of metronidazole-induced encephalopathy and Wernicke's encephalopathy, Metronidazole-induced encephalopathy should be initially considered when midbrain red nucleus lesions are observed.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"637-641"},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"[A case of numb chin syndrome caused by postcentral gyrus infarction].","authors":"Naoki Sawada, Miki Ueda, Toshitaka Umemura, Mikiko Kamijo, Takashi Kameyama","doi":"10.5692/clinicalneurol.cn-001984","DOIUrl":"10.5692/clinicalneurol.cn-001984","url":null,"abstract":"<p><p>We report a case of numb chin syndrome caused by a small cortical infarction in the postcentral gyrus. A 67-year-old man suddenly developed numbness in his right lower lip and the chin. There were no apparent abnormal neurological symptoms other than numbness. MRI revealed a fresh small infarction in the left postcentral gyrus, which corresponds with the somatosensory area of the lower lip and the chin drawn by Penfield and Rasmussen. MRA showed no significant stenosis in the main trunk of the cerebral arteries. A soft plaque with irregular wall was detected in the left carotid bifurcation on carotid ultrasonography. Based on these findings, we diagnosed him with arteriogenic cerebral embolism, and started antiplatelet therapy. A small infarction in the postcentral gyrus can cause numbness in the lower lip and the chin, which can be considered numb chin syndrome. Numb chin syndrome due to thalamic infarction has been reported previously. The present case is the first numb chin syndrome caused by a small cortical infarction in the postcentral gyrus.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"668-670"},"PeriodicalIF":0.0,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}