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Table 4 X-ALD patients’ characteristics

From: Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Patient

Age (years)

Phenotype

NFS

IQ

Behavioral and other symptoms

MRI (Loes score)

Treatment

4

12

Adrenal insufficiency

0

118

Hyperactivity

Normal (0)

Hydrocortisone, fludrocortisone

Oil mixture GTE/GTO

5

5

Adrenal insufficiency

0

108

Hyperactivity

Normal (0)

Hydrocortisone

Oil mixture GTE/GTO

6

22

Adrenal insufficiency, CALD

0

107

Impulsivity, adaptive and social difficulties

Corpus callosum genu and white matter of frontal lobes, internal capsule (6)

Oil mixture GTE/GTO Hydrocortisone

7

18

Adrenal insufficiency, CALD

0

97

 

Corpus callosum genu (1)

HSCT, hydrocortisone

8

14

CALD

3

55

Hyperactivity, visuospatial impairment and dyspraxia

Corpus callosum genu and splenium, optic tract, parieto-occipital and fronto-temporal white matter (11)

HSCT