Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.
Toriumi
Yoshitaka
Y
Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan. toriumi@r3.dion.ne.jp
Takusa
Yuichi
Y
Uchiyama
Atsushi
A
Kimura
Masahiko
M
Sejima
Hitoshi
H
Yamaguchi
Seiji
S
Eda
Isematsu
I
Nishino
Ichizo
I
Nonaka
Ikuya
I
D000328:Adult; D049310:Distal Myopathies / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D014057:Tomography, X-Ray Computed / Q000379:methods; D014617:Vacuoles / Q000473:pathology*
D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase