title: Granuloma formation in a patient with GNE myopathy: A case report.
abstract: We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells. Granuloma formation has never been reported in patients with GNE myopathy. We presume that aggregation of abnormal proteins and autophagy dysregulation in the myocytes of GNE myopathy could induce granuloma formation.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan. Electronic address: k-nkmr@med.kanazawa-u.ac.jp.
authors.forename: Keiko
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Hamaguchi
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Sakai
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Noto
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan; Department of Neurology, Showa University School of Medicine, 1-5-8 Hatanodai, Shinagawa-ku, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Ono
authors.affiliation: Department of Pathophysiology, Tokyo Medical University, 6-1-1 Shinjuku, Shinjuku-ku, Tokyo, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hayashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000368:Aged; D049310:Distal Myopathies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006099:Granuloma / Q000473:pathology*; D006801:Humans; D009097:Multienzyme Complexes / Q000378:metabolism*
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
keywords: GNE myopathy; Granuloma; Inflammation