Neuromuscular Disorders
Volume 20, Issue 2 , Pages 136-138, February 2010

Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

  • Alfred Peter Born

      Affiliations

    • Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark
    • Corresponding Author InformationCorresponding author. Address: Paediatric Clinic, Pediatric Neurology 5003N, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen N, Denmark. Tel.: +45 35455093; fax: +45 35456717.
    • ,
  • Klaus Müller

      Affiliations

    • Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark
    • ,
  • Hanne Vibeke Marquart

      Affiliations

    • Department of Clinical Immunology, University of Copenhagen, Rigshospitalet, Denmark
    • ,
  • Carsten Heilmann

      Affiliations

    • Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark
    • ,
  • Lone Schejbel

      Affiliations

    • Department of Clinical Immunology, University of Copenhagen, Rigshospitalet, Denmark
    • ,
  • John Vissing

      Affiliations

    • Neuromuscular Research Unit and Department of Neurology, University of Copenhagen, Rigshospitalet, Denmark

Received 7 August 2009; received in revised form 30 October 2009; accepted 16 November 2009.

Abstract 

Griscelli syndrome is an autosomal recessive disorder characterized by pigmentary dilution and is occasionally associated with a hemophagocytic syndrome (type 2). We present a 13-year-old girl with Griscelli syndrome type 2, who developed a hemophagocytic syndrome along with marked muscle weakness and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle involvement should be considered in patients with hemophagocytic syndrome to ensure proper treatment.

Keywords: Griscelli syndrome, Myositis, Hemophagocytic syndrome, Hematopoietic cell transplantation

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PII: S0960-8966(09)00691-9

doi:10.1016/j.nmd.2009.11.009

Neuromuscular Disorders
Volume 20, Issue 2 , Pages 136-138, February 2010

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