Paediatric Clinic, University of Copenhagen, Rigshospitalet, Denmark.
Neuromuscul Disord. 2010 Feb;20(2):136-8. doi: 10.1016/j.nmd.2009.11.009. Epub 2010 Jan 19.
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.
格雷塞利综合征是一种常染色体隐性疾病，表现为色素减退，偶尔伴有噬血细胞综合征（2 型）。我们报告了一例 13 岁女孩患格雷塞利综合征 2 型，该患者出现噬血细胞综合征，伴有明显的肌肉无力和血浆肌酸激酶升高。肌肉活检显示一些肌束有大量炎症改变，而其他肌束相对不受影响。免疫抑制和异基因造血细胞移植后，临床症状和活检改变得到缓解。我们的结果表明，噬血细胞综合征患者应考虑肌肉受累，以确保得到适当的治疗。
