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 ,Revised 30 October 2009 ,Accepted 16 November 2009.

References 

  1. Ménasché G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112:450–456
  2. Van Gele M, Dynoodt P, Lambert J. Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res. 2009;22(3):268–282
  3. Meschede IP, Santos TO, et al. Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. Braz J Med Biol Res. 2008;41(10):839–848
  4. Ravelli A. Macrophage activation syndrome. Curr Opin Rheumatol. 2002;145:48–52
  5. Masri A, Bakri FG, Al-Hussaini M, et al. Griscelli syndrome type 2: a rare and lethal disorder. J Child Neurol. 2008;239:64–67
  6. Aricò M, Zecca M, Santoro N, et al. Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant. 2002;29:995–998
  7. Klein C, Philippe N, Le Deist F, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr. 1994;125:886–895
  8. Ost A, Nilsson-Ardnor S, Henter JI. Autopsy findings in 27 children with haemophagocytic lymphohistiocytosis. Histopathology. 1998;32:310–316
  9. Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;212:45–53
  10. Johnson RW, Williams FM, Kazi S, et al. Human immunodeficiency virus-associated polymyositis: a longitudinal study of outcome. Arthritis Rheum. 2003;491:72–78
  11. Emanuel PO, Sternberg LJ. Phelps RG Griscelli syndrome. Skinmed. 2007;6:147–149

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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