Calpainopathy with macrophage-rich, regional inflammatory infiltrates.

Autor: Schutz PW; Division of Neuropathology, UCL Institute of Neurology, Queen Square, London, UK., Scalco RS; Division of Neuropathology, UCL Institute of Neurology, Queen Square, London, UK., Barresi R; Muscle Immunoanalysis Unit, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Parton M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Holton JL; Division of Neuropathology, UCL Institute of Neurology, Queen Square, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK. Electronic address: janice.holton@ucl.ac.uk.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2017 Aug; Vol. 27 (8), pp. 738-741. Date of Electronic Publication: 2017 Apr 27.
DOI: 10.1016/j.nmd.2017.04.012
Abstrakt: Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. We present the case of a 33-year old female with mild proximal muscle weakness and high CK levels (6698 IU/L at presentation). Muscle biopsy showed clusters of fibre necrosis associated with very dense macrophage infiltrates and small numbers of lymphocytes, raising the possibility of an inflammatory myopathy. No eosinophils were observed. Immunosuppressive treatment was started without clinical improvement. MRI demonstrated bilateral fatty replacement in posterior thigh and calf muscles. Western blot results prompted Sanger sequencing of the calpain-3 gene revealing compound heterozygous mutations c.643_663del and c.1746-20C>G. Our case widens the myopathological spectrum of calpainopathies to include focal macrophage rich inflammatory change.
(Copyright © 2017 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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