Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Neuromuscul Disord
; 27(8): 738-741, 2017 Aug.
Article
em En
| MEDLINE
| ID: mdl-28602176
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Calpaína
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Distrofia Muscular do Cíngulo dos Membros
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Macrófagos
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Proteínas Musculares
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Reino Unido