Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation.
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.
Born
Alfred Peter
AP
Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark. peter.born@rh.regionh.dk
Müller
Klaus
K
Marquart
Hanne Vibeke
HV
Heilmann
Carsten
C
Schejbel
Lone
L
Vissing
John
J
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
D015415:Biomarkers; D003402:Creatine Kinase