Clinical syndrome | Age of presentation | Symptoms and signs | Diagnostic tests | Follow-up tests | Therapy |
Male | |||||
Leukodystrophy | >2 years (peak 4 to 8); rare after 50 years | Asymptomatic to severely disabled, depending on degree of white matter lesions | MRI of brain (pathognomonic); VLCFA; ABCD1 sequencing | MRI of brain | HCT in eligible patients |
Spinal cord disease and peripheral neuropathy | >20 years (but highly variable, can be much later) | Myelopathy with spasticity, sphincter dysfunction, and prominent dorsal column dysfunction | MRI of brain and spinal cord; VLCFA; ABCD1 sequencing | Supportive | |
Adrenal insufficiency | >1 year (85% before 18 years) | Hyperpigmentation, fatigue, malaise, orthostasis, adrenal crisis | ACTH stimulation test | Hormone replacement | |
Female | |||||
Spinal cord disease and peripheral neuropathy | >40 years (can be earlier or much later) | Myelopathy with spasticity, sphincter dysfunction, and prominent dorsal column dysfunction | VLCFA; ABCD1 sequencing | Supportive |
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