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Table 1 Brain morphometric profile in cystinosis and age- and sex-matched healthy controls

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