Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation.

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.

• Authors: Alfred Peter Born, Klaus Müller, Hanne Vibeke Marquart, Carsten Heilmann, Lone Schejbel, John Vissing
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 20 Issue 2 Pg. 136-8 (Feb 2010) ISSN: 1873-2364 [Electronic] England
• PMID: 20034795 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Elsevier B.V. All rights reserved.

Chemical References

• Biomarkers
• Creatine Kinase

Topics

• Acquired Immunodeficiency Syndrome (genetics, physiopathology, therapy)
• Adolescent
• Biomarkers (analysis, blood)
• Biopsy
• Chromosome Disorders (genetics)
• Comorbidity
• Creatine Kinase (analysis, blood)
• Epstein-Barr Virus Infections (complications, genetics, physiopathology)
• Female
• Genes, Recessive (genetics)
• Hematopoietic Stem Cell Transplantation (methods)
• Humans
• Immunity, Innate (genetics)
• Lymphohistiocytosis, Hemophagocytic (genetics, physiopathology, therapy)
• Muscle Fibers, Skeletal (metabolism, pathology)
• Muscle, Skeletal (metabolism, pathology, physiopathology)
• Myositis (genetics, physiopathology, therapy)
• Piebaldism (genetics, metabolism, physiopathology)
• Syndrome
• Treatment Outcome