An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure.
A 25-year-old man developed a stroke-like episode. He suffered from renal failure and became dialysis-dependent. His mother was also dialysis-dependent. A3243G point mutation of the mitochondrial tRNA(leu) gene was detected in both of them. The patient was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and died of a recurrence of stroke-like episodes at the age of 30. Autopsy revealed numerous abnormal mitochondria in the kidneys, but no renal vascular changes. This is the first report of a MELAS case in which the presence of numerous abnormal mitochondria in podocytes and tubules was confirmed by electron microscopy.
Yanagihara
C
C
Department of Neurology, Nishi-Kobe Medical Center.
Oyama
A
A
Tanaka
M
M
Nakaji
K
K
Nishimura
Y
Y
D000140:Acidosis, Lactic / Q000150:complications*; D000328:Adult; D001344:Autopsy; D017809:Fatal Outcome; D006801:Humans; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D017241:MELAS Syndrome / Q000150:complications* / Q000235:genetics; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications*; D017354:Point Mutation; D006435:Renal Dialysis