Neuromuscular disorders : NMD · 2010
Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Born Alfred Peter, Müller Klaus, Marquart Hanne Vibeke, Heilmann Carsten, Schejbel Lone, Vissing John
Аннотация
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.
Предметные рубрики MeSH
Acquired Immunodeficiency SyndromeAdolescentBiomarkersBiopsyChromosome DisordersComorbidityCreatine KinaseEpstein-Barr Virus InfectionsFemaleGenes, RecessiveHematopoietic Stem Cell TransplantationHumansImmunity, InnateLymphohistiocytosis, HemophagocyticMuscle Fibers, SkeletalMuscle, SkeletalMyositisPiebaldismSyndromeTreatment Outcome