Learn about adrenocortical leukodystrophy

The article was professionally consulted by MSc Huynh An Thien - Department of Medical Examination and Internal Medicine, Vinmec International General Hospital Da Nang.

Adrenal leukodystrophy is one of the most common diseases affecting males. The disease progresses rapidly and affects the adrenal glands, limiting the production of the hormone cortisol.

Leukodystrophy is a group of genetic disorders that cause neurodegeneration. The disease is related to the integrity of myelin in the brain and peripheral nerves. Leukopenia is common in disease groups: Lysosomal diseases (white matter-associated lysosomal diseases), peroxisomal diseases (corpuscular disorders), and mitochondrial diseases (mitochondrial dysfunction manifesting in the brain). . Each group has different clinical, biochemical, pathological and imaging characteristics.

Adrenal leukodystrophy is an inherited disorder that occurs mainly in men, affecting the nervous system and adrenal glands. In this disorder, the fat that covers the nerves in the brain and spinal cord is prone to degeneration, reducing the ability to relay information to the brain. In addition, damage to the adrenal cortex causes a lack of certain hormones (adrenal insufficiency). Adrenal failure can cause weakness, weight loss, skin changes, vomiting, coma...
Adrenal leukodystrophy has an incidence of 1 in 10,000 men. This is the most common peroxisome genetic disease, caused by mutations in the gene on chromosome Xq28, more than 200 mutations have been isolated so far.

Children with adrenocortical dystrophy will experience learning problems and related symptoms, usually starting between the ages of 4 and 10. Over time symptoms worsen and these children may have difficulty hearing, reading, writing, and understanding material. Other signs and symptoms of the cerebral form include: aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal function. These disorders progress differently but can be very rapid, often leading to defects within a few years. A child's life expectancy depends on the severity of the signs, symptoms, and how quickly the disorder progresses. Children usually live only a few years after symptoms begin but can live longer with intensive medical support.
Signs and symptoms of the disease appear in mid-adult or middle age: muscle weakness and sclerosis in the legs, urinary and genital disorders, often changes in behavior and thinking ability. Most people with adrenocortical leukodystrophy also have adrenal insufficiency. In some severely affected people, it can lead to brain damage, cerebral palsy, and nervous system damage, leading to early death.

Diagnostic test: Elevated very long-chain fatty acids in the patient's plasma MRI: Degeneration of the white matter around the occipital horn of the lateral ventricles. In the first stage, bilateral symmetric white matter destruction appears in the periventricular lateral region of the occipital horn. Then continue to progress upwards until all white matter is destroyed. Injury to the white matter cortex is usually in the late stages. The medial region exhibits inflammatory activity and disrupts the blood-brain barrier.

Pay attention to a high-fat diet, eat lorepos oil.
Currently, medicine has not found an effective treatment for diseases related to this genetic disorder. Studies have shown that bone marrow transplants and stem cell therapy have, in some cases, helped slow disease progression.
Master Doctor Huynh An Thien has strengths and experiences in examination, consultation and treatment of neurological diseases; respiratory and endocrine - metabolic diseases
Before being a neurologist at the Department of Medical Examination and Internal Medicine - Vinmec International Hospital Da Nang, Dr. Thien used to have long working experience at the hospital Hue Central