Kobe Journal of Medical Sciences, 1992
TI: Marinesco-Sjogren syndrome with reduced cytochrome c oxidase in muscle.
AU: Kodama-S; Komatsu-M; Miyoshi-M; Nakao-H; Sakurai-T; U-M
AD: Department of Pediatrics, Himeji Red Cross Hospital, Japan.
SO: Kobe-J-Med-Sci. 1992 Aug; 38(4): 245-54
AB: The present study deals with the sisters of Marinesco-sjogren 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.