Mayo Clinic doctors trained in treating children who have brain and nervous system conditions (pediatric neurologists), doctors trained in brain and nervous system conditions (neurologists), and others work together to diagnose your condition. Mayo Clinic doctors have experience diagnosing adrenoleukodystrophy (ALD), which may be difficult to diagnose because the symptoms are similar to other neurological conditions.
To diagnose your condition, your doctor will review your symptoms and your medical and family history. Your doctor will conduct a physical examination and order several tests.
- Blood testing. Your doctor will order blood tests to check for high levels of very long-chain fatty acids (VLCFA) in your blood, which are a key indicator of adrenoleukodystrophy. Doctors use blood samples for genetic testing to identify defects or mutations that cause ALD. Doctors also use blood tests to evaluate how well your adrenal glands work.
- Magnetic resonance imaging (MRI). An MRI uses powerful magnets and radio waves to create detailed images of your brain. An MRI allows doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue (white matter) of your brain. Doctors may use several types of MRI to view the most detailed images of your brain and detect early signs of leukodystrophy.
- Vision screening. Your doctor may order vision screening and other tests for children who aren't experiencing other symptoms.
- Skin biopsy and fibroblast cell culture. A small sample of skin (skin biopsy) may be taken to check for increased levels of VLCFA in some cases.