title: 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.affiliation: Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark. peter.born@rh.regionh.dk
authors.forename: Alfred Peter
authors.initials: AP
authors.lastname: Born
authors.forename: Klaus
authors.initials: K
authors.lastname: Müller
authors.forename: Hanne Vibeke
authors.initials: HV
authors.lastname: Marquart
authors.forename: Carsten
authors.initials: C
authors.lastname: Heilmann
authors.forename: Lone
authors.initials: L
authors.lastname: Schejbel
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000293:Adolescent; D015415:Biomarkers / Q000032:analysis / Q000097:blood; D001706:Biopsy; D025063:Chromosome Disorders / Q000235:genetics; D015897:Comorbidity; D003402:Creatine Kinase / Q000032:analysis / Q000097:blood; D020031:Epstein-Barr Virus Infections / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009220:Myositis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy*; D016116:Piebaldism / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; D003402:Creatine Kinase