Table 5.
Unlikely group characteristics
| No. | Agea | Gender | Clinical & biochemical | Molecular diagnosis | Age of death | Venous lactate | CSF lactate | MRI abnormality | ATP speed | MRS lactate | MRS L/Crb |
|---|---|---|---|---|---|---|---|---|---|---|---|
| (yr) | diagnosis | (yr) | (mmol/l) | (mmol/l) | (%) | ||||||
| (n = 2) | (n = 25) | (n = 8) | |||||||||
| 1. | 2.2 | Female | Developmental delay of unknown origin | - | - | 2.5 | ND | 1 | ND | 6 | 15 |
| 2. | 0.8 | Male | Failure to thrive, rickets | - | - | 1.2 | ND | 0 | ND | 6 | 14 |
| 3. | 8.2 | Male | Developmental delay of unknown origin | - | - | 0.9 | ND | 0 | ND | 7 | 15 |
| 4. | 1.7 | Female | Developmental delay of unknown origin | - | - | 3.6 | ND | 0 | ND | 8 | 21 |
| 5. | 9.3 | Female | Raynaud’s phenomenon of unknown origin | - | - | 0.6 | 1.9 | 0 | 60.8 | 7 | 20 |
| 6. | 0.2 | Male | Exercise intolerance of unknown origin | - | - | 3.5 | 1.5 | 0 | ND | 12 | 26 |
| 7. | 12.2 | Male | Loss of skills | - | - | 0.9 | ND | 0 | ND | 10 | 18 |
| 8. | 3.2 | Male | Developmental delay of unknown origin | - | - | 0.8 | ND | 0 | ND | 8 | 19 |
| 9. | 6.2 | Male | Developmental delay of unknown origin | - | - | 0.8 | 1.5 | 0 | ND | 10 | 19 |
| 10. | 12.9 | Male | Mild retardation, autism | - | - | 2.0 | 1.5 | 0 | ND | 10 | 19 |
| 11. | 2.0 | Male | Developmental delay of unknown origin | - | - | 1.0 | ND | 0 | ND | 7 | 17 |
| 12. | 10.0 | Male | Severe retardation and autism | - | - | 1.4 | 1.8 | 0 | ND | 9 | 13 |
| 13. | 2.9 | Male | Bilateral movement disorder of unknown origin | - | - | 3.3 | ND | 0 | ND | 11 | 20 |
| 14 | 0.5 | Female | Cryptogenic epilepsy, perceptive hearing loss | - | - | 1.2 | 1.7 | 0 | ND | 11 | 19 |
| 15 | 5.1 | Male | Epilepsy, microcephaly | 15q13.2q13.3 duplication | - | 0.8 | 1.4 | 0 | ND | 8 | 11 |
| 16 | 4.7 | Female | Epilepsia partialis continua | - | - | 1.5 | 1.5 | 0 | ND | 0 | 0 |
| 17. | 0.1 | Female | Hypochondroplasia | FGFR3-gen mutation | - | 1.7 | 1.2 | 0 | ND | 11 | 17 |
| c.1620C > A, p.Asn540Lys | |||||||||||
| 18. | 1.6 | Male | Developmental delay of unknown origin, epilepsy | - | - | 1.4 | 1.5 | 0 | ND | 9 | 17 |
| 19 | 1.8 | Female | Psychomotor retardation, epilepsy | 2q16.3 deletion | - | 0.7 | ND | 0 | ND | 9 | 18 |
| 20 | 3.4 | Male | Cockayne syndrome | homozygous mutation ercc8 | - | 0.7 | 2.2 | 0 | 55.2 | 9 | 23 |
| 21. | 0.8 | Male | Suspected of Freeman-Sheldon syndrome | - | 3.6 | 1.2 | 2.0 | 1 | ND | 10 | 13 |
| 22 | 2.8 | Male | Epilepsy | - | - | 1.5 | 1.5 | 0 | ND | 7 | 15 |
| 23. | 1.1 | Male | Psychomotor retardation ARX mutation | epilepsy | - | 1.2 | 1.4 | 0 | ND | 8 | 17 |
| 24. | 1.8 | Male | Failure to thrive | - | - | 2.5 | ND | 0 | ND | 8 | 20 |
| 25. | 2.2 | Male | Motor development delay, perceptive hearing loss of unknown origin | - | - | 1.7 | 1.6 | 0 | ND | 5 | 17 |
| 26 | 4.0 | Male | Developmental delay, PDD-NOS | del(15)(q11.2), del(10)(q26.3) | - | 1.3 | ND | 0 | ND | 8 | 21 |
| 27 | 8.0 | Female | Falling of unknown origin | - | - | 2.4 | ND | 0 | ND | 8 | 20 |
| 28 | 11.7 | Male | Motor retardation | - | - | 0.5 | ND | 0 | ND | 7 | 14 |
| 29 | 5.4 | Female | Low IQ of unknown origin | - | - | 1.5 | 1.3 | 0 | ND | 7 | 11 |
| 30 | 6.3 | Male | Epilepsy, developmental delay | - | - | 1.3 | 1.4 | 0 | ND | 10 | 21 |
| 31. | 10.0 | Male | Retardation, ADHD | - | - | 0.5 | ND | 0 | ND | 8 | 16 |
| 32. | 15.2 | Male | Developmental delay of unknown origin | - | - | 2.8 | ND | 0 | ND | 12 | 16 |
| 33 | 4.6 | Female | Psychomotor retardation, hairy elbow syndrome | - | - | 1.1 | ND | 0 | ND | 6 | 17 |
| 34 | 0.4 | Female | Tonus regulation disorder | - | - | 1.1 | 1.6 | 0 | ND | 10 | 20 |
| 35. | 2.7 | Female | Febrile seizure | - | - | 1.3 | 1.6 | 0 | ND | 8 | 19 |
| 36 | 0.2 | Male | PROM with lung hypoplasia, failure to thrive, Peripheral pulmonary | - | - | 1.0 | ND | 0 | ND | 7 | 23 |
| 37. | 5.7 | Male | Myotonia, slow motor development, exercise intolerance | - | - | 2.7 | 1.0 | 0 | 51 | 10 | 21 |
| 38 | 2.5 | Male | Seizures of unknown origin | - | - | 3.5 | 1.4 | 0 | ND | 8 | 16 |
| 39. | 4.5 | Male | Retardation of unknown origin | - | - | 0.6 | ND | 0 | ND | 7 | 15 |
| 40. | 3.7 | Male | Muscle weakness of unknown origin | - | - | 1.5 | 1.4 | 0 | ND | 8 | 17 |
| 41. | 1.4 | Male | Atypical febrile seizures | - | - | 0.6 | 1.6 | 0 | ND | 9 | 18 |
| 42. | 13.8 | Male | Exercise intolerance | - | - | 0.8 | ND | 0 | ND | 7 | 17 |
| 43. | 3.3 | Female | Developmental delay, epilepsy of unknown origin | - | - | 1.2 | 1.4 | 0 | ND | 8 | 16 |
| 44 | 0.1 | Female | Congenital cardio-myopathy | - | 0.1 | 2.4 | 1.6 | 0 | 22.4 | 8 | 18 |
a age at first MRS scan; b MRS lactate/creatine ratio The MRS reference subgroup = the first 10 cases; ND not determined; PDD-NOS pervasive developmental disorder not otherwise specified; ADHD Attention Deficit Hyperactivity Disorder; PROM premature rupture of membranes; MRI abnormality score: 0, ‘Normal’ (no abnormalities); 1, ‘Basal ganglia abnormalities’; 2, ‘Mesencephalon and/or brainstem abnormalities’; 3, ‘Atrophy’; 4, ‘Thalamus abnormalities’; and 5, ‘A combination of the abnormalities mentioned’ (1-4)