Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder

Non-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...

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Autores principales: Finsterer,Josef, Bastovansky,Adam
Lenguaje:English
Publicado: Sociedad Médica de Santiago 2015
Materias:
Cardiomyopathies
Mitochondrial diseases
Seizures
Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000900016
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spelling oai:scielo:S0034-988720150009000162015-10-22Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorderFinsterer,JosefBastovansky,Adam Cardiomyopathies Mitochondrial diseases Seizures Non-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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.143 n.9 20152015-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000900016en10.4067/S0034-98872015000900016
institution Scielo Chile
collection Scielo Chile
language English
topic Cardiomyopathies
Mitochondrial diseases
Seizures
spellingShingle Cardiomyopathies
Mitochondrial diseases
Seizures
Finsterer,Josef
Bastovansky,Adam
Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
description Non-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.
author Finsterer,Josef
Bastovansky,Adam
author_facet Finsterer,Josef
Bastovansky,Adam
author_sort Finsterer,Josef
title Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
title_short Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
title_full Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
title_fullStr Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
title_full_unstemmed Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder
title_sort multiorgan disorder syndrome (mods) in an octagenarian suggests mitochondrial disorder
publisher Sociedad Médica de Santiago
publishDate 2015
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015000900016
work_keys_str_mv AT finstererjosef multiorgandisordersyndromemodsinanoctagenariansuggestsmitochondrialdisorder
AT bastovanskyadam multiorgandisordersyndromemodsinanoctagenariansuggestsmitochondrialdisorder
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