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Specialty: Internal Medicine
Condition: Ataxia

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Total 19 results found since Jan 2013.

Discrepancy between perfusion- and diffusion-weighted images in ischemic stroke: A case report
Rationale: With the development of multi-slice computed tomography (CT) technology, perfusion CT angiography (p-CTA) is now widely used for the diagnosis of acute cerebral infarction. Although p-CTA has the advantage of distinguishing between an ischemic penumbra and an infarct core, more research is needed with respect to its clinical use. Patient concerns: A healthy 36-year-old man experienced sudden dizziness while swimming. His dizziness persisted irrespective of the change in position, and then improved during transport. He had no neurological abnormality when he arrived at the emergency room. Diagnoses: CT pe...
Source: Medicine - December 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation.
We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes at adolescence. They all presented with gastrointestinal symptoms at an advanced clinical stage. They were diagnosed with chronic intestinal pseudo-obstruction, and they were resistant to therapy. The mother and her youngest daughter died from aspiration pneumonia because of vomiting. The dete...
Source: Internal Medicine - May 2, 2017 Category: Internal Medicine Tags: Intern Med Source Type: research

Cardiac Myxoma With Unusual Obstructive and Embolic Presentations: Concurrent Stroke and Angiography-Negative Myocardial Infarction—A Case Report
We present a case of cardiac myxoma with atypical presentations of concurrent stroke and angiography-negative myocardial infarction. The case emphasizes the importance of basic echocardiography and timely surgery in the management of cardiac myxoma. An elderly woman presented to the emergency department in an unconscious state. Electrocardiogram and elevated cardiac enzymes suggested acute myocardial infarction; however, immediate coronary angiography proved patency. Basic echocardiography revealed an oscillating left atrial myxoma obstructing inflow through the mitral valve. After regaining consciousness while in the inte...
Source: Medicine - September 1, 2015 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
We report here the clinical and molecular data of 10 newly diagnosed patients from seven families and update the disease history of four additional patients reported in previous articles to delineate the clinical spectrum of ARCA2 phenotype and to provide a guide to the molecular diagnosis. First signs occurred before adulthood in all 14 patients. Cerebellar atrophy appeared in all instances. The progressivity and severity of ataxia varied greatly, but no patients had the typical inexorable ataxic course that characterizes other childhood-onset recessive ataxias. The ataxia was frequently associated with other neurological...
Source: Orphanet Journal of Rare Diseases - October 28, 2013 Category: Internal Medicine Authors: Cyril MignotEmmanuelle ApartisAlexandra DurrCharles Marques LourençoPerrine CharlesDavid DevosCaroline MoreauPascale de LonlayNathalie DrouotLydie BurglenNadine KempfElsa NourissonSandra Chantot-BastaraudAnne-Sophie LebreMarlène RioYves ChaixEric BiethE Source Type: research