Dysferlin deficiency treated like refractory polymyositis.
When an adult suffers from muscular symptoms, the diagnosis of polymyositis is often accepted if muscular biopsy reveals necrosis, fibrosis and cellular infiltrate with high expression of major histocompatibility complex class I. Late-onset limb-girdle muscular dystrophy (LGMD) can also be considered. We report the case of a young woman who suffers from dysferlin deficiency, and who was mistakenly treated for refractory polymyositis for 5 years. In LGMD, standard pathological analysis can indeed wrongly give a diagnosis of polymyositis. Immunofixation must be performed to avoid this mistake.
Vinit
Julien
J
Department of Internal Medicine and Systemic Disease, Hôpital Général, Dijon University Hospital, 3 rue Faubourg Raines, 21033 Dijon cedex, France. julien.vinit@chu-dijon.fr
Samson
Maxime
M
Gaultier
Jean-Baptiste
JB
Laquerriere
Annie
A
Ollagnon
Elisabeth
E
Petiot
Philippe
P
Marie
Isabelle
I
Levesque
Hervé
H
Rousset
Hugues
H
D000328:Adult; D017668:Age of Onset; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D003402:Creatine Kinase / Q000097:blood; D003951:Diagnostic Errors; D000073939:Dysferlin; D005260:Female; D006801:Humans; D000069285:Infliximab; D008565:Membrane Proteins / Q000172:deficiency*; D009124:Muscle Proteins / Q000172:deficiency*; D049288:Muscular Dystrophies, Limb-Girdle / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D017285:Polymyositis / Q000175:diagnosis*
D000893:Anti-Inflammatory Agents; D000911:Antibodies, Monoclonal; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D000069285:Infliximab; D003402:Creatine Kinase