What is adrenoleukodystrophy?
Adrenoleukodystrophy is a genetic disorder of the myelin, a type of leukodystrophy. It is caused by a genetic defect in peroxisomes, which are tiny structures within cells.
Are there different types of adrenoleukodystrophy?
Three types are described as cerebral (when only brain is affected), adrenomyeloneuropathy (when adrenal glands, brain, and spinal cord are affected), and Addison (when only adrenal gland is affected) types.
How is adrenoleukodystropy inherited?
It is an X-linked disorder, which means that mostly male children are affected as they only have one X chromosome. If a woman has the abnormal X chromosome, she could be affected but the disease usually is not as severe as in men. Adult-onset disease affects both men and women.
What exactly is the defect in adrenoleukodystrophy?
Due to a genetic abnormality of ABCD1 gene, there is accumulation of very long chain fatty acids in brain, spinal cord, and adrenal glands. It leads to disruption of walls of microscopic blood vessels, which leads to an auto-immune inflammatory reaction. The end-result is disruption of signaling due to destruction of myelin and the neurons.
How does adrenoleukodystrophy present?
It presents with symptoms suggestive of a brain disorder. Typically, a child develops problem with attention, academic performance, visual difficulties, problem with walking, problem with bladder control, and sometimes seizures. Examination may reveal signs of a brain disorder such as poor fine motor skills, spastic (stiff) gait, and hyperreflexia. Usual age of presentation is elementary school years, or early adulthood.
How is adrenoleukodystrophy confirmed?
An MRI of brain may reveal confluent areas of demyelination with a particular pattern including corpus callosum. It is more so in the back of brain, with some enhancement around the edges. Blood test may also reveal abnormal levels of very long chain fatty acids. If available, the gene test may also reveal abnormality of ABCD1 gene.
How is adrenoleukodystrophy treated?
There is no cure. If left untreated, once the brain is affected the child may become comatose in 2 years and die from it. Following are some options:
- N -acetyl cysteine, questionable efficacy.
- Lorenzo’ oil (combination of erucic acid and oleic acid), questionable efficacy.
- Stem cell transplant, effective if done before any significant brain damage.
- Gene therapy, being tested.
Patients are followed with serial MRI’s every six months in young age. Stem cell therapy is offered when brain involvement appears on MRI.
Where can I find more information about adrenoleukodystrophy?
American Academy of Pediatric Neurology Section
United Leukodystrophy Foundation
National Organization for Rare Disorders
Genetic and Rare Diseases Information Center
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