Young man with chronic myositis – a long history of illness

Abstract-Text (inkl. Referenzen)

The diagnosis of myositis is based on clinical, serological and morphological characterization and certain subtypes are defined. Inflammatory cells in muscle biopsies are a hallmark of most myositis subtypes. We received a muscle biopsy from a young man with a massive inflammatory cell component, which was initially diagnosed as myositis. Detailed analysis of muscle pathology and reevaluation of the clinical findings revealed a chronic inflammatory disease with involvement of multiple organs. The final diagnosis of a rare hereditary immune deficiency syndrome (Griscelli syndrome type 2/ GS2) was based on experts from different fields and took several years before treatment could be started. This case demonstrate a long journey of finding a diagnosis in a patient with a rare disease.