From: Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Brain structure | Cystinosis patients (n = 16) | Age and sex-matched healthy controls (n = 16) | Group comparison |
---|---|---|---|
Evans’ Index |  |  | p < 0.0001 |
Atrophy | |||
 Frontal | 7/16 | 0/16 | p < 0.01 |
 Parietal | 16/16 | 1/16 | p < 0.0001 |
 Temporal | 6/16 | 0/16 | p < 0.05 |
 Occipital | 5/16 | 0/16 | p < 0.05 |
 Corpus callosum | 11/16 | 0/16 | p < 0.0001 |
 Cerebellum | 10/16 | 1/16 | p < 0.001 |
FLAIR hypersignals | |||
 Frontal | 5/16 | 1/16 | NS |
 Parietal | 5/16 | 0/16 | p < 0.05 |
 Temporal | 2/16 | 0/16 | NS |
 Occipital | 15/16 | 3/16 | p < 0.0001 |
Brain stem | |||
 Mesencephalon | 1/16 | 0/16 | NS |
 Pons | 9/16 | 1/16 | p < 0.005 |
 Medulla oblongata | 15/16 | 0/16 | p < 0.0001 |
 Around the 4th  ventricule including cerebellar pedoncles | 12/16 | 2/16 | p < 0.001 |