Abstract
INTRODUCTION AND IMPORTANCE: In Morocco, diagnosing Gamma Sarcoglycanopathies mainly relies on histopathological analysis of muscle biopsies due to limited genetic and molecular research access. This study highlights the significance of muscle biopsies and explores potential predictive factors and possible correlation between histopathological abnormalities and clinical phenotypes. CASE PRESENTATION: Muscle biopsies of six patients diagnosed with γ-sarcoglycanopathy were collected over two years. Pathological analysis was initially performed on slides stained with Hematoxylin-Eosin and Gomori Trichrome. Additionally, cryosections marked for dystrophin, alpha, beta, and gamma sarcoglycans were reviewed. In the second phase of the analysis, formalin-fixed sections from each biopsy were immunostained for various markers: "anti-CD68" for macrophagic cells, "anti-CD56" for satellite cells, and "anti-CD31" for vascular capillary. These stained sections were then carefully examined. CLINICAL DISCUSSION: The clinical presentation of the disease was uniform and consistent with Duchenne-like dystrophy. However, the histological abnormalities were heterogeneous and did not correlate with the severity of the clinical phenotype. The Loss of expression of a Sarcoglycan and earlier age of onset appear to be the most significant predictive markers of disease progression. Immuno-staining patterns for CD68, CD56, and CD31 indicated an impairment in the muscle regeneration process, probably, at an early stage of the disease. CONCLUSION: This study's findings are crucial for understanding pathogenesis and identifying new therapeutic targets. However, because of the small sample size, further confirmation through a larger cohort is necessary.