Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
- Affiliations
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- 1Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea. pkd1165@ewha.ac.kr
- 2Department of Pathology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- 3Department of Neurology, Konkuk University School of Medicine, Seoul, Korea.
- 4Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
- KMID: 2354128
- DOI: http://doi.org/10.3988/jcn.2016.12.3.373
Abstract
- No abstract available.
MeSH Terms
Figure
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Fig. 1 Pedigree, sequencing chromatograms, conservation profile, and pathology. A: Pedigree of a Korean patient with compound heterozygous PYGM mutations. Arrows indicates the proband (square: male; circle: female; filled: affected; and nonfilled: unaffected). B: Sequencing chromatograms of PYGM mutations c.1531delG (p.D511fs) and c.1999A>T (p.I667F). Arrows indicate mutation sites. C: Conservation analysis of the amino acid sequence at the p.I667F mutation site, which was well conserved among the subset of species studied. D, E, and F: Histopathologic examination of a deltoid muscle. D: Hematoxylin and eosin (H-E) stain revealed moderate variations of fiber size and shape, and the presence of many scattered necrotic myofibers with macrophage infiltration. E and F: Electron microscopy revealed focal subsarcolemmal accumulation of glycogen (E) and necrotic myofibers exhibiting variable stages of degenerative changes (F) (D: H-E stain, ×200, E: EM, ×6,000, F: EM, ×7,000).
Reference
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