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 Tard
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
2  Service de Neurologie et Pathologie Neuro-inflammatoire, CHRU de Lille, Lille, France
,
Vincent Tiffreau
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
3  Service de Médecine Physique et Réadaptation, CHRU de Lille, Lille, France
,
Emmanuelle Jaillette
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
4  Service de Réanimation Médicale, CHRU de Lille, Lille, France
,
Fabienne Jouen
5  Department of Immunology, Rouen University Hospital, Rouen, France
,
Isabelle Nelson
6  Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Universités, Paris, France
,
Gisèle Bonne
6  Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Universités, Paris, France
,
Rabah Ben Yaou
6  Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Universités, Paris, France
,
Norma Romero
6  Centre de Recherche en Myologie, Institut de Myologie, Sorbonne Universités, Paris, France
,
Louis Vallée
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
7  Service de Neuropédiatrie, CHRU de Lille, Lille, France
,
Patrick Vermersch
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
2  Service de Neurologie et Pathologie Neuro-inflammatoire, CHRU de Lille, Lille, France
,
Sylvie Nguyen
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
7  Service de Neuropédiatrie, CHRU de Lille, Lille, France
,
Claude-Alain Maurage
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
8  Service D'anatomopathologie, CHRU de Lille, Lille, France
,
Jean-Marie Cuisset
1  Centre de Référence des Maladies Rares, Maladies Neuromusculaires, Lille, France
7  Service de Neuropédiatrie, CHRU de Lille, Lille, France
› Author Affiliations
Further Information

Publication History

15 February 2017

03 June 2017

Publication Date:
04 August 2017 (eFirst)

Abstract

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.