Literature DB >> 26960270

[A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes].

Jun Yokoyama1, Hiroo Yamaguchi, Hiroshi Shigeto, Takeshi Uchiumi, Hiroyuki Murai, Jun-ichi Kira.   

Abstract

A 24-year-old man was referred to our hospital emergency department due to a sudden onset of convulsions after drinking. On arrival he presented status epilepticus and was managed by artificial ventilation. He had no brainstem signs or meningeal irritation. Head MRI showed an old infarction-like lesion in the left occipital lobe, but no abnormal signals on diffusion-weighted images. The patient showed acute rhabdomyolysis (CK 18,000 IU/l) and renal failure, and hemodialysis was started. On 18 day after admission, he was transferred to our department with mild proximal limb muscle weakness and bilateral sensorineural hearing impairment. Electroencephalography demonstrated diffuse intermittent slow wave activities. We suspected a mitochondrial disease because of a significant increase in the lactate/pyruvate ratio (24.1) in the spinal fluid, and identified A3243G mutations in mitochondrial DNA (heteroplasmy 20%) in peripheral white blood cells. We diagnosed his illness as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This is a rare case presenting an acute onset of rhabdomyolysis following alcohol intake related to A3243G mitochondrial mutation without preceding stroke-like episodes.

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Year:  2016        PMID: 26960270     DOI: 10.5692/clinicalneurol.cn-000834

Source DB:  PubMed          Journal:  Rinsho Shinkeigaku        ISSN: 0009-918X


  5 in total

1.  Renal manifestations of primary mitochondrial disorders.

Authors:  Josef Finsterer; Fulvio Alexandre Scorza
Journal:  Biomed Rep       Date:  2017-04-12

2.  A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis.

Authors:  Hisashi Ito; Shigeru Fukutake; Sanae Odake; Riki Okeda; Osamu Tokunaga; Tetsumasa Kamei
Journal:  Intern Med       Date:  2020-07-07       Impact factor: 1.271

Review 3.  Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.

Authors:  Ahmad M Aldossary; Essam A Tawfik; Mohammed N Alomary; Samar A Alsudir; Ahmed J Alfahad; Abdullah A Alshehri; Fahad A Almughem; Rean Y Mohammed; Mai M Alzaydi
Journal:  Saudi Pharm J       Date:  2022-05-28       Impact factor: 4.562

4.  Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Authors:  Caterina Garone; Aaron R D'Souza; Cristina Dallabona; Tiziana Lodi; Pedro Rebelo-Guiomar; Joanna Rorbach; Maria Alice Donati; Elena Procopio; Martino Montomoli; Renzo Guerrini; Massimo Zeviani; Sarah E Calvo; Vamsi K Mootha; Salvatore DiMauro; Ileana Ferrero; Michal Minczuk
Journal:  Hum Mol Genet       Date:  2017-11-01       Impact factor: 6.150

5.  Leukocytes mediate disease pathogenesis in the Ndufs4(KO) mouse model of Leigh syndrome.

Authors:  Julia C Stokes; Rebecca L Bornstein; Katerina James; Kyung Yeon Park; Kira A Spencer; Katie Vo; John C Snell; Brittany M Johnson; Philip G Morgan; Margaret M Sedensky; Nathan A Baertsch; Simon C Johnson
Journal:  JCI Insight       Date:  2022-03-08
  5 in total

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