Literature DB >> 26530206

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

Josef Finsterer, Adam Bastovansky.   

Abstract

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.

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Year:  2015        PMID: 26530206     DOI: 10.4067/S0034-98872015000900016

Source DB:  PubMed          Journal:  Rev Med Chil        ISSN: 0034-9887            Impact factor:   0.553


  10 in total

1.  Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Sultan Qaboos Univ Med J       Date:  2016-02-02

2.  Clinical diagnosis in the era of DNA testing.

Authors:  Scott E Brodie
Journal:  Doc Ophthalmol       Date:  2019-03-28       Impact factor: 2.379

3.  Phenotypic spectrum of the m.8344A>G mutation.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Neurol       Date:  2016-04-28       Impact factor: 4.849

Review 4.  Mitochondrial vasculopathy.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  World J Cardiol       Date:  2016-05-26

Review 5.  Leber's hereditary optic neuropathy is multiorgan not mono-organ.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Clin Ophthalmol       Date:  2016-11-02

6.  Costs for mitochondrial medicine will remain high as long as mitochondrial disorders are misdiagnosed.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  Mol Genet Metab Rep       Date:  2017-08-07

Review 7.  Gastrointestinal manifestations of mitochondrial disorders: a systematic review.

Authors:  Josef Finsterer; Marlies Frank
Journal:  Therap Adv Gastroenterol       Date:  2016-10-06       Impact factor: 4.409

8.  Aseptic meningitis as a manifestation of a mitochondrial disorder.

Authors:  Josef Finsterer; Klaus W Preidler
Journal:  Arch Med Sci       Date:  2016-12-29       Impact factor: 3.318

9.  Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.

Authors:  Angelica Bianco; Luigi Bisceglia; Maria Fara De Caro; Valeria Galeandro; Patrizia De Bonis; Apollonia Tullo; Stefano Zoccolella; Silvana Guerriero; Vittoria Petruzzella
Journal:  BMC Med Genet       Date:  2018-07-27       Impact factor: 2.103

Review 10.  Update Review about Metabolic Myopathies.

Authors:  Josef Finsterer
Journal:  Life (Basel)       Date:  2020-04-17
  10 in total

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