Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

TY - JOUR

T1 - Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

AU - Born, Alfred Peter

AU - Müller, Klaus

AU - Marquart, Hanne Vibeke

AU - Heilmann, Carsten

AU - Schejbel, Lone

AU - Vissing, John

N1 - Copyright 2009 Elsevier B.V. All rights reserved.

PY - 2010/2/1

Y1 - 2010/2/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.nmd.2009.11.009

DO - 10.1016/j.nmd.2009.11.009

M3 - Journal article

SN - 0960-8966

VL - 20

SP - 136

EP - 138

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 2

ER -