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dc.contributoren-US
dc.creatorFinsterer, Josef; dr
dc.creatorBastovansky, Adam
dc.date2015-08-24
dc.date.accessioned2019-11-11T18:27:54Z
dc.date.available2019-11-11T18:27:54Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4173
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111361
dc.descriptionNon-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.en-US
dc.formatapplication/pdf
dc.languageeng
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4173/1461
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4173/17903
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4173/18205
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4173/18206
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4173/18207
dc.sourceRevista Médica de Chile; Vol. 143, núm. 9 (2015): SEPTIEMBRE 2015es-ES
dc.source0034-9887
dc.subjectCardiomyopathies; Mitochondrial diseases; Seizuresen-US
dc.titleMultiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder.en-US
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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