title: A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction.
abstract: A 45-year-old woman with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) had muscular atrophy, severe cerebral and cerebellar atrophy, and cardiac hypertrophy. She also had diabetes mellitus treated with insulin, and sensorineural hearing loss. Ragged-red fibers were observed on muscle biopsy and an adenine to guanine transition mutation at position 3243 of her mitochondrial DNA was confirmed. Further investigations revealed that she also had hypothalamo-pituitary dysfunction. It appears that diabetes mellitus, hypothalamo-pituitary dysfunction, and the other abnormalities are all associated with mitochondrial dysfunction in this patient.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Joko
authors.forename: K
authors.initials: K
authors.lastname: Iwashige
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Ono
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: N
authors.initials: N
authors.lastname: Sekiguchi
authors.forename: T
authors.initials: T
authors.lastname: Kuroki
authors.forename: T
authors.initials: T
authors.lastname: Yanase
authors.forename: R
authors.initials: R
authors.lastname: Takayanagi
authors.forename: F
authors.initials: F
authors.lastname: Umeda
authors.forename: H
authors.initials: H
authors.lastname: Nawata
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology*; D017241:MELAS Syndrome / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications / Q000473:pathology / Q000503:physiopathology