Neuropediatrics 2017; 48(06): 473-476
DOI: 10.1055/s-0037-1604402
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

Céline Tard1, 2, Vincent Tiffreau1, 3, Emmanuelle Jaillette1, 4, Fabienne Jouen5, Isabelle Nelson6, Gisèle Bonne6, Rabah Ben Yaou6, Norma Romero6, Louis Vallée1, 7, Patrick Vermersch1, 2, Sylvie Nguyen1, 7, Claude-Alain Maurage1, 8, Jean-Marie Cuisset1, 7
  • 1Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
  • 2Service de Neurologie et Pathologie Neuro-inflammatoire, CHRU de Lille, Lille, France
  • 3Service de Médecine Physique et Réadaptation, CHRU de Lille, Lille, France
  • 4Service de Réanimation Médicale, CHRU de Lille, Lille, France
  • 5Department of Immunology, Rouen University Hospital, Rouen, France
  • 6Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Universités, Paris, France
  • 7Service de Neuropédiatrie, CHRU de Lille, Lille, France
  • 8Service D'anatomopathologie, CHRU de Lille, Lille, France
Further Information

Publication History

15 February 2017

03 June 2017

Publication Date:
04 August 2017 (eFirst)


Introduction Necrotizing autoimmune myopathies (NAMs) are acquired myopathies with myofibrillar necrosis and weak or absent inflammatory component, sometimes associated with anti-signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies.

Observation The patient, a girl now aged 20 years, was first assessed at the age of 5 years for abnormal gait revealing frank pelvic deficit. Creatine kinase (CK) levels were as high as 7,500 IU/L. Subsequent muscle biopsy showed some necrosis, fiber regeneration, and fibrosis consistent with muscular dystrophy (MD). Protein immunohistochemistry was normal. The disease course was progressive until wheelchair use at the age of 9 years. At 12 years of age, a second muscle biopsy found an advanced MD with some perivascular inflammatory mononuclear cells. All molecular analyses done through 14 years of follow-up were negative till anti-HMGCR antibodies were detected at a significant amount when she was 19 years old.

Discussion NAMs begin at a pediatric age and may have a chronic course mimicking MDs. Muscular biopsy can be misleading with a predominantly dystrophic pattern without inflammation.

Conclusion This observation should prompt the assessment of NAMs in all MDs, even pediatric, without molecular solutions.