＜Editors' Choice＞ Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report.

Myelodysplastic syndrome is associated with the development of autoinflammatory conditions, such as recurrent fever, polymyalgia, arthralgia, and erythema. Trisomy 8 is a common chromosomal abnormality in patients with myelodysplastic syndrome. Myelodysplastic syndrome with trisomy 8 involves autoinflammatory conditions, especially Behçet's disease-like symptoms with intestinal mucosal damage. MEFV variants, particularly those in exon 10, are pathogenic in familial Mediterranean fever, the most common autoinflammatory disease, presenting typical symptoms such as periodic fever and pleuritis/pericarditis/peritonitis. MEFV variants outside exon 10 are common in Japanese patients with familial Mediterranean fever and are associated with atypical symptoms, including myalgia and erythema. MEFV variants in myelodysplastic syndrome with trisomy 8 have rarely been investigated, although myelodysplastic syndrome with trisomy 8 might develop autoinflammatory conditions similar to those in familial Mediterranean fever. We encountered a 67-year-old man who had myelodysplastic syndrome with trisomy 8 and multiple MEFV variants outside exon 10. He presented with periodic fever, as well as chest/abdominal pain, myalgia, and erythema, although the symptoms did not fulfill the diagnostic criteria of familial Mediterranean fever. We discussed the possibility that these symptoms are modified by MEFV variants outside exon 10 in myelodysplastic syndrome with trisomy 8.

A descriptive study of Parkinson disease and atypical parkinsonisms in the Annuals of the Pathological Autopsy Cases in Japan.

Although many entities have been established within the broad spectrum of Parkinson disease (PD) and atypical parkinsonisms, they are often difficult to differentiate. To clarify the current clinical diagnostic conditions and problems in PD and atypical parkinsonisms, we analyzed volumes of the Annuals of the Pathological Autopsy Cases in Japan. Among 130 105 autopsies conducted from 2007 to 2016 throughout Japan, patients were included in the study if they had been either clinically or pathologically diagnosed with PD, multiple system atrophy (MSA), progressive supranuclear palsy (PSP), or corticobasal degeneration (CBD). Autopsy rates were 6.4% for clinically diagnosed PD, 34.1% for MSA, 16.3% for PSP, and 17.4% for CBD. The specificities and sensitivities of clinical diagnoses were 88.0% and 82.0% for PD, 95.2% and 86.0% for MSA, 82.7% and 73.2% for PSP, and 55.4% and 57.7% for CBD, respectively. Clinical diagnoses had relatively high accuracy, but low autopsy rates are of concern. Many patients with rarer disorders were clinically misdiagnosed with PD, a more common disorder. Autopsy rates, irrespective of specific disorders, should be increased to detect rare diseases. Increasing autopsy rates will increase the available clinical information regarding pathologically confirmed patients and contribute to more accurate clinical diagnoses.

Posterior Reversible Encephalopathy Syndrome after a Variety of Combined Chemotherapies Containing Bevacizumab for Metastatic Colon Cancer.

A 44-year-old woman with advanced metastatic colon cancer received chemotherapies comprising oxaliplatin and capecitabine (XELOX), irinotecan hydrochloride, leucovorin calcium and fluorouracil irinotecan (FOLFIRI)/panitumumab and mFOLFOX6/bevacizumab. Fifteen months later, she presented with the acute onset of a headache, drowsiness and seizure with a fever and hypertension. Brain magnetic resonance imaging (MRI) indicated bilateral regions of signal hyperintensity in the white matter with spasms of bilateral cerebral arteries apparent on magnetic resonance angiography. Posterior reversible encephalopathy syndrome (PRES) was diagnosed, and treatments resulted in improvement of the MRI findings, but the patient experienced cerebral infarction and ultimately died of deterioration of cancer on day 26 after the onset of PRES.

Cerebral infarction due to cardiac myxoma developed with the loss of consciousness immediately after defecation-a case report.

A 74-year-old man lost consciousness immediately after defecation. The loss of consciousness lasted for several minutes, and he experienced difficulty in walking when he regained consciousness. He was transferred to our hospital via an ambulance. Upon neurological examination, nystagmus and ataxia in the left arm and leg were noted. An MRI of the brain revealed multiple acute infarcts mainly in the bilateral cerebellum. Intravenous thrombolytic therapy with alteplase was initiated 3 h and 20 min after the onset of symptoms, and an improvement in neurological symptoms was observed. Echocardiography displayed a mobile mass in the left atrium, suggesting myxoma. After 14 days from the onset of symptoms, the tumor was surgically resected, and a pathological diagnosis of myxoma was established. Because of the unique event surrounding the onset in this case, we considered that there was a potential detachment of myxoma and/or thrombi fragments triggered by an increase in intrathoracic pressure induced by the action of defecation. This present case suggests that clinicians should consider cardiac myxoma in patients with cerebral infarction if the stroke is preceded by a Valsalva maneuver-like action and accompanied by the loss of consciousness.

Carotid Artery Stenting Successfully Prevents Progressive Stroke Due to Mobile Plaque.

We report a case of progressive ischemic stroke due to a mobile plaque, in which carotid artery stenting successfully prevented further infarctions. A 78-year-old man developed acute multiple infarcts in the right hemisphere, and a duplex ultrasound showed a mobile plaque involving the bifurcation of the left common carotid artery. Maximal medical therapy failed to prevent further infarcts, and the number of infarcts increased with his neurological deterioration. Our present case suggests that the deployment of a closed-cell stent is effective to prevent the progression of the ischemic stroke due to the mobile plaque.

Fatal Intraperitoneal Bleeding after Intravenous Administration of Tissue Plasminogen Activator.

We report a case of acute ischemic stroke, which developed fatal intraperitoneal bleeding after intravenous administration of alteplase. An 86-year-old woman developed acute infarction of the right middle cerebral artery during admission for chronic heart failure. Two days before the stroke, liver biopsy was performed; the result was benign. Although rivaroxaban was prescribed for atrial fibrillation, the rivaroxaban had been discontinued for liver biopsy until the time when she developed the stroke. A condition of recent biopsy required careful determination of eligibility of intravenous alteplase; however, we considered that the benefit of intravenous alteplase outweighed the hemorrhagic adverse effects. Alteplase (0.6 mg/kg) was started 2 hours after the stroke onset, however, no clinical improvement was obtained. One hour after the completion of alteplase, she suddenly developed a shock state. Emergent computed tomography disclosed massive intraperitoneal hemorrhage. She died 8 hours after the completion of alteplase. In the present case, mechanical thrombectomy without intravenous alteplase can be an alternative therapeutic option.

Transbrachial carotid artery stenting can prevent renal cholesterol embolism.

A 78-year-old man was admitted for the treatment of internal carotid artery stenosis. The left internal carotid artery was occluded and stenosis of the right internal carotid artery was progressive. The patient had a history of renal cholesterol embolism associated with percutaneous peripheral intervention. Stenting of the right internal carotid artery was successfully performed via the right brachial artery, and cholesterol embolism was not noted after the procedure. This case suggests that carotid artery stenting (CAS) performed via a brachial approach is less likely to elicit cholesterol embolism than CAS performed via a femoral approach.