A (5 y) | Unremarkable | Pneumonia, Na 122, K 4.0, glucose 2 | 310 | 2068 | 6.3 | 7 y | Neurological deterioration, behavioural problems, school failure, decreased vision | 2 y | 2.88 | Rapid neurological deterioration, severely handicapped, requires gastrostomy feeds |
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B (3.7 y) | Unremarkable | Abdominal pain, vomiting, convulsion, hyperpigmentation, Na 124, K 4.6, glucose 4.5 | 84 | 384 | 5.8 | 3.8 y | Physician awareness of ALD | 1 mth | 4.30 | MRI and neuropsychology normal at 14 y of age |
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C (9 y) | Unremarkable | Severe vomiting and diarrhoea with dehydration, Na 120, K 4.4, glucose 3.6 | 201 | 246 | 4.6 | 9 y | Maternal request (due to disease in maternal uncle who developed Addison's disease at 11 y, AMN at 39 y, died at 42 y) | 1 mth | 3.64 | MRI and neuropsychology normal at 12 y of age |
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D (5 y) | Prolonged afebrile seizure at 2.5 y, FTT, developmental delay since 3.5 y | Severe vomiting and listlessness, Na 120, K 4.9, glucose 1.5 | 294 | 299 | 8.6 | 5.5 y | Author's survey | 6 mth | 2.97 | Rapid neurological deterioration, died aged 6 y |
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E (3 y) | Numerous minor infections, FTT since 8 months old | Vomiting and decreased consciousness, hyperpigmentation, Na 120, K 4.9, glucose 2 | 113 | 150 | 3.2 | 4 y | Author's survey | 1 y | 3.87 | MRI changes at 8.5 y, neuropsychological performance stable |
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F (5 y) | Unremarkable | Severe vomiting, abdominal pain, collapse with decreased BP, hyperpigmentation | Low baseline cortisol | No results available (diagnosis 34 y before) | Not done | 34 y | Urinary voiding problems at 34 y, bladder neck excision for presumed outflow obstruction, parasthaesia and gait problems | 29 y | 3.05 | Continues to have gait problems, poor coordination, paresthaesia and neurogenic bladder |