OVERVIEW

What is leukodystrophy?

Leukodystrophy refers to the destruction of the myelin sheath surrounding nerve fibers in the white matter of the brain due to harmful factors, leading to clinical symptoms such as memory decline, emotional agitation, language disorders, and visual impairments^[1].

Currently, most patients with leukodystrophy have identifiable causes, including pathological changes induced by hypertension, diabetes, hyperlipidemia, and other conditions that can damage the brain's white matter.

Early detection, diagnosis, and treatment are crucial for this condition, as timely intervention can improve prognosis.

Is leukodystrophy common in China?

Leukodystrophy is a common disease, primarily affecting the elderly, though specific epidemiological data are currently unavailable^[2].

What are the types of leukodystrophy?

Based on etiology, it can be classified into^[1]:

• Immune-mediated demyelination: Caused by immune-related inflammation, including conditions like disseminated encephalomyelitis, concentric sclerosis, multiple sclerosis, neuromyelitis optica, and tumor-like inflammatory demyelinating diseases.
• Vascular demyelination: Resulting from carotid atherosclerosis leading to insufficient cerebral blood supply.
• Toxic demyelination: Caused by factors such as carbon monoxide poisoning.
• Nutritional demyelination: Due to genetic defects impairing normal myelin development.
• Infectious demyelination: Triggered by immune-related viral infections.

SYMPTOMS

What are the symptoms of white matter demyelination?

After onset, patients may experience psychiatric symptoms such as emotional agitation, forced crying or laughing, and memory decline, as well as manifestations like speech disorders (dysphonia), visual impairment (reduced vision or even blindness), consciousness disorders (coma, lethargy), coughing while drinking, dysphagia, urinary incontinence, dementia, sensory abnormalities, and paralysis (hemiplegia or quadriplegia).

What complications may white matter demyelination cause?

Aspiration pneumonia: Due to symptoms like dysphagia and coughing while drinking, patients are prone to coughing or aspiration during eating or drinking, accidentally inhaling food particles or water into the lungs, leading to aspiration pneumonia.

CAUSES

What are the common causes of cerebral white matter demyelination?

• Diabetes: Chronic hyperglycemia can damage vascular endothelial cells, promote inflammatory responses, impair brain tissue metabolism, and lead to cerebral white matter demyelination.
• Hypertension: Elevated diastolic and systolic blood pressure are significant risk factors for cerebral white matter demyelination.
• Carotid atherosclerosis: Cerebral white matter demyelination is closely associated with factors such as neck and peripheral vascular conditions and carotid intima-media thickness, making carotid atherosclerosis a major cause of demyelination lesions^[2].
• Blood Hcy levels: Homocysteine (Hcy) is a sulfur-containing amino acid produced during metabolism that can damage blood vessels. Vascular endothelial cell injury causes irreversible damage to the brain's self-regulatory function, leading to cerebral white matter demyelination^[2].
• Age: Key components of white matter myelinated nerve fibers (myelin basic protein and lecithin) are no longer produced after adulthood, and their levels decline with age. Thus, the risk of cerebral white matter demyelination increases with age^[2].
• Environmental factors: Low oxygen partial pressure in desertified regions can cause increased blood viscosity, reduced red blood cell deformability, and impaired oxygen-carrying capacity, leading to cerebral white matter demyelination^[3].
• Immune factors: Certain immune-inflammatory diseases (e.g., systemic lupus erythematosus, rheumatoid arthritis) may destroy peripheral nerve myelin (the protective layer of nerve fibers), damaging nerve fibers and triggering this condition.

Who is more susceptible to cerebral white matter demyelination?

• Individuals with diabetes: Poor long-term blood sugar control in diabetics increases the risk of peripheral neuropathy and this condition.
• Individuals with hypertension: Elevated diastolic and systolic blood pressure are significant risk factors, making them more prone to this disease.
• Individuals with carotid atherosclerosis: Carotid atherosclerosis can lead to insufficient cerebral blood supply, increasing susceptibility to this condition.
• Individuals with high blood Hcy levels: Elevated Hcy levels impair the brain's self-regulatory function, raising the risk of this disease.
• Elderly individuals: Levels of myelin basic protein and lecithin decline with age, increasing the risk of this condition in older adults.
• Residents of desert regions: Low oxygen partial pressure in such areas increases blood viscosity, reduces red blood cell deformability, and impairs oxygen-carrying capacity, raising susceptibility.
• Individuals with a family history of cerebral white matter demyelination: This condition has a genetic component, so those with a family history have a higher risk.
• Individuals with central nervous system immune inflammation: Those with autoimmune diseases (e.g., systemic lupus erythematosus, rheumatoid arthritis) have imbalanced immune regulation, increasing the likelihood of this condition.

Is cerebral white matter demyelination hereditary?

Cerebral white matter demyelination has a genetic component, particularly in individuals with congenital inherited metabolic disorders, specific enzyme deficiencies, or PLP (proteolipid protein, a major myelin membrane protein crucial for myelin structure formation and maintenance) gene mutations^[4].

DIAGNOSIS

How to diagnose white matter demyelination? What tests are needed?

It is generally diagnosed through consultation and relevant imaging examinations.
Consultation: By interviewing patients and their families to understand medical history, it helps assess the basic condition.
Brain MRI: This is the most common clinical method for diagnosing white matter demyelination. It can identify the location of white matter lesions and assist doctors in determining the cause. Imaging typically shows patchy demyelination changes in the white matter, involving arcuate fibers^[1].

Which diseases are easily confused with white matter demyelination? How to differentiate them?

Leukoaraiosis: Both conditions may present symptoms of neurological impairment, such as language disorders and memory decline. However, leukoaraiosis primarily affects individuals aged 50 and above, often accompanied by cerebrovascular diseases. Differentiation requires a brain MRI examination.

TREATMENT

Which department should patients with suspected or confirmed white matter demyelination see?

Neurology, Emergency Department.

How is white matter demyelination treated?

Medication:

• Corticosteroids: Suppress inflammation and immune responses by altering proteins in cells, reducing nerve cell swelling^[4]. Common drugs include prednisone, prednisolone, dexamethasone, etc. High doses may cause side effects like elevated blood sugar and osteoporosis, so they must be used under medical supervision. They are contraindicated for those with allergies. Early application yields better results, while delayed treatment leads to poorer outcomes.
• Intravenous immunoglobulin (IVIG): Used for immune regulation to prevent nerve and muscle dysfunction[4]. IVIG is effective and better tolerated, with rare severe side effects like kidney failure or allergies, but it is expensive.
• Immunosuppressants: Used to suppress inflammation or immune responses, preventing nerve damage. Suitable for patients dependent on or intolerant to steroids^[4]. Common drugs include azathioprine, cyclosporine, methotrexate, etc. Side effects include hair loss and liver damage. Contraindicated for those with allergies.

Can white matter demyelination be cured?

Currently, white matter demyelination cannot be completely cured. However, with standardized treatment, most patients' symptoms can improve, enabling self-care and normal work^[1].

How long can patients with white matter demyelination live?

The average survival time after onset is 25–30 years. Timely and effective medication to regulate brain function can improve prognosis and extend survival^[1].

DIET & LIFESTYLE

What should patients with white matter demyelination pay attention to in their diet?

• Daily diet should mainly consist of low-salt, low-fat, light, and easily digestible foods;
• Avoid greasy foods and high-cholesterol foods such as chicken liver, pork liver, etc.;
• Eat more fresh vegetables and fruits (apples, pears, strawberries, greens, celery, carrots, etc.) to maintain smooth bowel movements.

What should patients with white matter demyelination pay attention to in daily life?

• Take medication on time as prescribed, do not adjust the dosage or stop suddenly, and follow the doctor's instructions for regular check-ups;
• Engage in appropriate daily exercise and limb function training, gradually increasing activity levels, such as walking, fist clenching, etc.;
• Maintain a regular lifestyle, ensure adequate sleep, and avoid excessive fatigue;
• Patients should accept the condition, develop healthy hobbies, cultivate a peaceful mindset, boost confidence, and actively cooperate with treatment.

Do patients with white matter demyelination need follow-up examinations? How?

Yes, follow-up examinations are necessary. Patients should visit the hospital for regular check-ups as advised by the doctor, along with CT scans to assess disease recovery.

PREVENTION

Can white matter demyelination be prevented? How to prevent it?

Yes, it can be prevented.

• Patients with underlying conditions such as hypertension, diabetes, or carotid atherosclerosis should actively treat their primary diseases, control symptoms, and undergo regular check-ups for early detection and intervention;
• Quit smoking and alcohol. Long-term smoking and drinking increase the risk of atherosclerosis, a major cause of white matter demyelination.