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Calpainopathy with macrophage-rich, regional inflammatory infiltrates

Schutz, PW; Scalco, RS; Barresi, R; Houlden, H; Parton, M; Holton, JL; (2017) Calpainopathy with macrophage-rich, regional inflammatory infiltrates. Neuromuscular Disorders , 27 (8) pp. 738-741. 10.1016/j.nmd.2017.04.012. Green open access

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Abstract

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.

Type: Article
Title: Calpainopathy with macrophage-rich, regional inflammatory infiltrates
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2017.04.012
Publisher version: https://doi.org/10.1016/j.nmd.2017.04.012
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Limb girdle muscular dystrophy; inflammatory myopathy; inflammatory dystrophy; muscle MRI
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1554496
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