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13 risultati
[Early recovery from locked-in syndrome due to brain infarction in a young patient with hypoplasia of bilateral vertebral arteries and a persistence of primitive trigeminal artery].
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A 36-year-old man was admitted to Kanto Chuo Hospital because of hearing loss and dysphagia. On admission physical and neurological findings revealed obesity, hypertension, nystagmus, right hearing loss, dysarthria, and dysphagia. Routine laboratory findings disclosed leukocytosis, liver
[Paradoxical embolism in a patient with aneurysm of the interatrial septum].
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We report a case of pulmonary embolism complicated by paradoxical cerebral embolism in a patient with atrial septal aneurysm and patent foramen ovale. The patient was a 65-year-old obese woman, admitted because of sudden development of right-sided hemiplegia and dysarthria. In the few days before
Successful endovascular recanalization of a partially occluded basilar artery fenestration.
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A 76-year-old man with a history of arterial hypertension, obstructive sleep apnea, dyslipidemia, family history of cardiovascular events, prestroke and overweight presented 90 minutes after acute onset of right-sided sensorimotor hemiparesis, hemiataxia and dysarthria (National Institutes of Health
Intracranial Atherosclerosis Versus Primary Angiitis of the Central Nervous System: a Case Report.
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Primary angiitis of the central nervous system (PACNS) is a rare disease with various clinical presentations. It is the preferred name for vasculitis that is confined to the central nervous system (CNS) and is often considered a diagnosis of exclusion in vascular or inflammatory CNS diseases. This
[Moyamoya disease as a cause of ischemic cerebral stroke in young people].
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35-year old patient was admitted to the Department of Neurology, Medical University of Bialystok because of paresis of his left upper limb, progressing over last 10 months and right facial nerve paresis, which started a month ago. During neurological examination he presented with right facial and
A Rare Case of Cerebellar Ataxia Due to Voltage-Gated Calcium Channel and Glutamic Acid Decarboxylase Autoantibodies.
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BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with
Progressing stroke with neurological deterioration in a group of Israeli elderly.
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Progressing stroke with neurological deterioration (PSND), i.e., neurological deterioration of patients during the first days following a stroke, although not an infrequent event, has hitherto been addressed only by few studies. This is the first investigation conducted in Israel with the aim to
Non-alcoholic Wernicke encephalopathy: great masquerader.
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Thiamine is an important coenzyme, which is essential for metabolism and maintaining cellular osmotic gradient. Thiamine deficiency can cause focal lactic acidosis, alteration of the blood-brain barrier and the production of free radicals through cell death by necrosis and apoptosis. Wernicke
GeneReviews®
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CLINICAL CHARACTERISTICS
Spinocerebellar ataxia type 38 (SCA38) is characterized as a pure cerebellar ataxia with symptoms typically manifesting in the fourth decade of life. The most common presenting features are nystagmus and slowly progressive gait ataxia. As the diseaseECG Of The Month: Mental Disturbance for 4 days.
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A family brought their 61-year-old mother to the emergency department because for 4 days she had been confused, incoherent, and somnolent. She also had dysphagia, dysarthria, diplopia, and had fallen out of bed. She had been in the hospital 3 weeks earlier for atrial fibrillation and an exacerbation
Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report.
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Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis
Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy.
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We describe an Egyptian family having SCA2 affecting three generations with marked molecular and clinical anticipation observed in the index case. Our proband was a male child starting as early as 2 years old with progressive extrapyramidal manifestations, slow eye movements and cognitive
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
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PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT
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