A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report.

We had a case of Emery-Dreifuss muscular dystrophy (EDMD) in an 18-year-old woman who underwent endovascular therapy for a cardioembolic stroke. At 5 years old, she showed a high creatine kinase level and atrial fibrillation on electrocardiography in our hospital. Finally, she was diagnosed as having EDMD by genetic screening that revealed mutations in the LMNA gene (c.810+1G>T). Before this event, she received no medications. At 18 years old, she was admitted to our hospital>8 hours after the onset of sudden consciousness disturbance. Neurological examination on admission revealed consciousness disturbance and right hemiplegia. Magnetic resonance imaging revealed a cerebral infarction in the left insular cortex and putamen with left internal carotid artery occlusion. We performed endovascular therapy and completely recanalized her left internal carotid artery. Thereafter, her neurological symptoms improved. She was subsequently transferred to a rehabilitation hospital. EDMD is a rare genetic muscular disease that mainly presents with contractures, weakness, and cardiac conduction abnormalities. Although patients with EDMD are young with low CHADS2 score, they have a disease-specific cardiovascular pathogenesis caused by a fatal risk factor. Therefore, we consider anticoagulant therapy necessary to prevent thrombotic events, even if the CHADS2 score is low, in patients with EDMD.

Symptomatic Lacunar Infarct Accompanied with Posterior Reversible Encephalopathy Syndrome: A Case Report.

We present a 48-year-old man with a history of hypertension, who suddenly noticed dysarthria and right hemiparesis. Diffusion-weighted MRI at 1 day after the onset showed a small high-intensity region in the left corona radiata, indicating the acute phase of lacunar infarction. Fluid attenuation inversion recovery images showed extensive hyperintense lesions predominantly in the white matter of the fronto-temporoparietal lobes and pons, indicating posterior reversible encephalopathy syndrome (PRES). In addition, T2*-weighted gradient-echo images showed multiple small round hypointense lesions in white matter and basal ganglia, indicating cerebral microbleeds. This is a rare case of symptomatic lacunar infarction accompanied with both PRES and microbleeds, which may suggest that the pathophysiology of PRES is related to hypertension.

[Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult].

We report a 30-year-old man with very-long-chain acyl-coenzyme A deficiency presenting recurrent rhabdomyolysis. Since the age of 18-year-old, he had noticed recurrent episodes of exercise induced limb muscle pain, limb weakness and dark colored urine. At 29-year-old, he developed the same symptoms, and was referred to our hospital for further examinations under a diagnosis of recurrent rhabdomyolysis. He had no history of trauma, administration of drugs, infections and other factors causing rhabdomyolysis. There were no similar cases in his household. Neurological examinations on admission revealed no abnormal findings. Routine laboratory findings only showed mildly elevated levels of muscle-origin enzymes including CK and aldolase. Ischemic forearm exercise test showed normal levels of lactate and pyruvate in resting state, and normal response after exercise. Organic acids in urine at asymptomatic period were normal. Total carnitine and acyl-carnitine levels in serum were low. Electrospray tandem mass spectrometry in dried blood spots and serum identified elevated level of tetradecenoic acid (C14:1), and palmitoyl-CoA dehydrogenase activity of lymphocytes was deficient. Based on these data, we made a diagnosis of very-long-chain acyl-coenzyme A (VLCAD) deficiency in this patient. Several reports showed that muscular form (adult onset form) of VLCAD deficiency demonstrated recurrent rhabdomyolysis, but true 'adult-onset' case with VLCAD deficiency have been rarely reported. We emphasize that muscular form of VLCAD deficiency should be regarded as one of the causes of recurrent rhabdomyolysis in adult.

Quercetin, a natural flavonoid, attenuates vacuolar formation in the optic tract in rat chronic cerebral hypoperfusion model.

Epidemiological studies suggest that the intake of flavonoids is inversely associated with risk of cardiovascular diseases and stroke, but there is no evidence showing the effect of flavonoids on vascular dementia. Because quercetin, a natural flavonoid, is known to scavenge free radicals, we investigated whether quercetin attenuates white matter damage in rats with chronic cerebral hypoperfusion, as a model of vascular dementia. Chronic hypoperfusion was induced by ligation of the bilateral carotid arteries in male Wistar rats, which received vehicle alone, 100 mg/kg quercetin, or 200 mg/kg quercetin intraperitoneally at 4-day intervals for 8 weeks after operation. Sham-operated rats were also studied. The area of vacuoles in the optic tract observed after hematoxylin and eosin staining was significantly reduced in the 200 mg/kg quercetin-treated hypoperfusion group versus the vehicle-treated hypoperfusion group (1.7+/-0.2% versus 3.9+/-0.3%; P<0.05). The present results are consistent with the idea that chronic treatment with quercetin could be protective against at least a part of ischemic white matter damage.