Table 2.
Radiological and pathological findings
| Patient | Muscle imaging | Muscle pathology | ||||||
|---|---|---|---|---|---|---|---|---|
| Duration from onset to biopsy | Necrosis and regeneration | Endomysial fibrosis | Mononuclear cellular infiltration | MHC-1/-2 | Sarcolemmal MAC deposition | Others | ||
| P1 | Atrophy in posterior thighs (CT) | 2.7 y | + | Moderate | − | +/− | − | Muscle atrophy, variable among fascicles |
| P2 | Unremarkable (CT) | 1 y | + | Mild | Perivascular | +/− | NR | NR |
| P3 | Unremarkable (CT) | <1 y | + | Minimal | − | +/− | NR | NR |
| P4 | Oedematous change in posterior thighs (MRI at 9 yo) | 3 y | + | Moderate | − | +/− | + | Degenerating fibres with small vacuoles |
| P5 | Atrophic change in limb-girdle muscles without oedematous change (MRI at 14 yo) | 4 y | + | Moderate | Perivascular | +/− | + | Degenerating fibres with small vacuoles |
| P6 | Patchy oedematous change in thigh muscles (MRI at 10 yo) | < 1 y | + | − | Perivascular | +/− | + | NR |
| P7 | Oedematous change in triceps brachii (MRI at 11 yo) | < 1 y | + | Mild | − | +/− | + | Cluster of atrophic fibres |
| P8 | Oedematous change in posterior thighs (MRI at 16 yo) | 3 y | + | Marked | Perivascular | +/− | + | NR |
| P9 | Atrophy of gluteus and thigh muscles; fatty infiltration (MRI at 26 yo) | 17 y | + | Mild | − | −/− | − | NR |
MAC: membrane attack complex; NR: not reported; y: years; yo: years old.