Neuroradiological findings of patients with CDK5RAP2 mutations
| Neuroradiological findings | Patient 1 10 years | Patient 2 4.5 years | Patient 3 4.5 years | Patient 4 11.5 years | Patient 5 10 years | Patient 6 5 years | Patient 7 13.75 years | |||||||
| Corpus callosum (CC) | Raw measure | 3rd percentile | Raw measure | 3rd percentile | Raw measure | 3rd percentile | Raw measure | 3rd percentile | Raw measure | 3rd percentile | Raw measure | 3rd percentile | Raw measure | 3rd percentile |
| APD (mm) | 45.7 | (59.1) | 47.91 | (55.5) | 42.43 | (55.5) | 55.86 | (59.7) | 49.06 | (59.1) | 30.09 | (56.2) | 29.39 | (61.7) |
| Cranial FOD (mm) | 121.6 | (148.6) | 113.2 | (140.5) | 113 | (140.5) | 130.1 | (145) | 114.5 | (148.6) | 113 | (142.3) | 125 | (147.5) |
| APD/FOD | 0.37 | (0.37) | 0.42 | (0.36) | 0.37 | (0.36) | 0.42 | (0.37) | 0.42 | (0.37) | 0.27 | (0.36) | 0.23 | (0.38) |
| GT (mm) | 9.48 | (7.3) | 7.25 | (6.7) | 7.36 | (6.7) | 8.72 | (7.4) | 7.96 | (7.3) | 6.2 | (6.9) | 7.22 | (7.6) |
| BT (mm) | 7.42 | (4) | 5.39 | (3.5) | 6.93 | (3.5) | 5.46 | (4) | 6.42 | (4) | 7.8 | (3.7) | 5.23 | (3.9) |
| IT (mm) | 7.3 | (2.4) | 4.82 | (1.9) | 6.02 | (1.9) | 6.14 | (2.4) | 6.32 | (2.4) | 6 | (2) | 4.6 | (2.5) |
| ST (mm) | 9.09 | (7.7) | 10.02 | (6.7) | 8.11 | (6.7) | 11.17 | (7.7) | 10.13 | (7.7) | 3.9 | (6.9) | 0 | (7.1) |
| Gyration | Simplified | Simplified | Simplified | Simplified | Simplified | Simplified | Simplified | |||||||
| Interhypothalamic adhesions | Yes | Yes | No | Yes | Yes | ? Midline sagittal sections>5 mm | Yes | |||||||
| Internal ear | Type II incomplete partition of the cochlea | Type II incomplete partition of the cochlea Enlarged right vestibular aqueduct | Type II incomplete partition of the cochlea | Type II incomplete partition of the cochlea | Type II incomplete partition of the cochlea | Not performed | Type II incomplete partition of the cochlea | |||||||
Adapted from Garel et al, 2011.50
APD, anteroposterior diameter of the corpus callosum;BT, body thickness;FOD, fronto-occipital diameter; GT, genu thickness; IT, isthmus thickness; ST, splenium thickness.