title: Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle.
abstract: The present study deals with the sisters of Marinesco-sjögren syndrome without parental consanguinity. Cranial MRI of sisters in a 0.5T superconducting magnet revealed the cerebellar hypoplasia or atrophy, especially in vermis and tonsils with dilatation of IVth ventricle. Microscopic findings of muscle biopsy indicated moderate variation of fibers with phagocytosis, rimmed vacuoles and no ragged red fibers with markedly decreased cytochrome C oxidase activity. 1H-NMR study of urine indicates the secondary decreased turnover rate in urea cycle due to high concentration of 3-hydroxy-n-butyrate.
authors.affiliation: Department of Pediatrics, Himeji Red Cross Hospital, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kodama
authors.forename: M
authors.initials: M
authors.lastname: Komatsu
authors.forename: M
authors.initials: M
authors.lastname: Miyoshi
authors.forename: H
authors.initials: H
authors.lastname: Nakao
authors.forename: T
authors.initials: T
authors.lastname: Sakurai
authors.forename: M
authors.initials: M
authors.lastname: U
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D003241:Consanguinity; D003576:Electron Transport Complex IV / Q000378:metabolism; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009132:Muscles / Q000201:enzymology* / Q000473:pathology; D011859:Radiography; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology*
chemical_list: D003576:Electron Transport Complex IV