title: [Marinesco-Sjögren syndrome--report of two patients in a family with muscle CT study].
abstract: Two patients with Marinesco-Sjögren syndrome in a family were characterized by autosomal recessive inheritance, congenital cataract, cerebellar ataxia, mental retardation, short stature and variable skeletal abnormalities. Muscle biopsy specimens showed replacement of muscle fibers by fat and fibrous tissue, a marked variation of fiber size and a rimmed vacuole formation. Nerve biopsy specimens showed a reduced number of myelinated nerve fibers in the sural nerves. Muscle CT revealed atrophy of the quadriceps femoris, semitendinosus, gastrocnemius and soleus muscles. Accordingly, extensor muscles in the thighs were more preferentially involved than flexor muscles in the legs.
authors.affiliation: Department of Neurology, National Saigata Hospital.
authors.forename: S
authors.initials: S
authors.lastname: Higuchi
authors.forename: K
authors.initials: K
authors.lastname: Taku
authors.forename: N
authors.initials: N
authors.lastname: Fukuhara
authors.forename: I
authors.initials: I
authors.lastname: Hozumi
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000000981:diagnostic imaging*; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed