Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

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

Jun Yokoyama, M.D.1), Hiroo Yamaguchi, M.D., Ph.D.1), Hiroshi Shigeto, M.D., Ph.D.1), Takeshi Uchiumi, M.D., Ph.D.2), Hiroyuki Murai, M.D., Ph.D.1) and Jun-ichi Kira, M.D., Ph.D.1)

1)Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
2)Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University

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.
Full Text of this Article in Japanese PDF (539K)

(CLINICA NEUROL, 56: 204|207, 2016)
key words: MELAS, rhabdomyolysis, acute renal failure, status epilepticus, A3243G mutation

(Received: 24-Oct-15)