Summary of clinical and laboratory data in patients who developed Addison's disease after initial diagnosis of X-ALD
| Patient (age)* | Significant past history | Clinical features at diagnosis of ALD | VLCFA (C26, μmol/l) | Subsequent clinical course | Age at diagnosis of Addison's disease | Peak cortisol (nmol/l) | ACTH (ng/l) | Renin (pmol/ml/h) |
|---|---|---|---|---|---|---|---|---|
| *Age at diagnosis of ALD. | ||||||||
| G (14 y) | Unremarkable | School failure with poor handwriting and drawing, hyperactive, neurological deterioration, coordination problems, and memory loss | 2.86 | Developed Addison's disease 6 mth later, rapid neurological deterioration, died aged 17 y | 14.6 | 269 | 184 | 12 |
| H (1.6 y) | Unremarkable | Family history of ALD in sibling | 1.71 | Developed Addison's disease 6 mth later, MRI and neuropsychology normal at 10 y of age | 2 y | 230 | 108 | 3.8 |
| I (15 y) | Unremarkable | School failure, impaired vision, behavioural problems | 3.50 | Slowly progressive form of C-ALD, manages self care, on carbamazepine for generalised epilepsy; developed Addison's disease 3 y later | 18 y | 490 | 227 | 1.8 |
| J (5.5 y) | Unremarkable | Family history of X-AMN in maternal uncles | 3.41 | Developed Addison's disease 5 y later; progressive neurological deterioration with ataxia, visual problems, memory loss, severely handicapped aged 16 y | 10.5 y | 447 | 147 | 2.1 |
| K (3 y) | Accidental skull fracture at 6 mth, has residual left sided hemiplegia | Family history of X-AMN | 2.86 | Diffuse MRI changes consistent with previous head injury, neuropsychological performance stable at 12 y; developed Addison's disease 3 y later | 6 y | 386 | 163 | 1.8 |