Case 1 a | Case 2 a | Case 3 a | Case 4 a | Case 5 | Case 6 a | Case 7 | Case 8 a | |
---|---|---|---|---|---|---|---|---|
Age (y) | 12 | 16 | 23 | 20 | 42 | 14 | 29 | 16 |
Onset age (y) | 0.3 | 10 | 10 | 6 | 9 | 9 | 8 | 7 |
Age of folinic acid treatment | 8.5 | 11 | 17 | 14 | - | 13 | - | 8 |
CSF Folate (nmol/L) | 7 | 5.6 | 2 | 6 | 24 | 4 | 1 | 8 |
Clinical features and age | ||||||||
NPMDS Score b | 31 | 7 | 26 | 29 | 100 (at 33y)** | 17 | 114** | 20 |
Ophthalmoplegia and retinopathy | 7 y | 10 y | 10 y | 7 y | 18 y | 9 y/12 y | 10 y | 9 y |
Cerebellar ataxia | 7 y | 15 y | 7 y | 27 y | 9 y | 8 y | 7 y | |
Myopathy | 7 y | 10 y | 15 y | 7 y | 12 y | 9 y | 10 y | 8 y |
Cardiac conduction block | 9 y | 11 y | 14 y | 9 y | 30 y | 14 y | 12 y | |
Diabetes mellitus | 12 y | 12 y | 15 y | |||||
Hearing loss | + | 12 y | 14 y | 21 y | 11 y | 9 y | ||
Others | Renal Fanconi 2 y Exocrine pancreatic insufficiency 3 y Suprarenal insufficiency 7 y | Pacemaker | Myoclonic jerks Short stature 9 y | Short stature Renal insufficiency | Short stature Pacemaker at 15 y | Myoclonic jerks | ||
Partial seizures | ||||||||
Short stature | ||||||||
Renal insufficiency | ||||||||
Suprarenal insufficiency | ||||||||
Molecular studies: % deletion (size) | 75% | 18% | 40% | 71% | 77% | 80% | 62% | 73% |
6900 | 7900 | 7100 | 5100 | 2434 | 5800 | 4977 | 4121 | |
Histopathology Muscle biopsy | - | Normal | Lipids in fibers | Raged-red fibers (RRF), COX negative | RRF | - | RRF | RRF partial COX deficient-fibers |