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 |