Wilson s disease in children symptoms causes and easy treatment

Wilson’s Disease in Children is a rare genetic disorder that causes copper to accumulate in the liver, brain, and eyes, potentially leading to serious health problems if not detected and treated early. In this article on Dalili Medical, we explain the causes of Wilson’s disease, its main symptoms, precise diagnostic methods, and modern treatment approaches for children. This guide will help parents or guardians protect their child and properly monitor their condition.

What is Wilson’s Disease in Children?

Wilson’s disease in children is a rare genetic disorder that causes copper to accumulate in the liver, brain, and eyes, potentially leading to serious health problems if not treated early. In affected children, the liver cannot properly remove copper from food, causing it to gradually build up. This leads to liver damage and eventually spreads into the bloodstream, affecting other organs such as the brain, kidneys, and eyes.

Wilson’s disease affects approximately 1 in every 30,000 children worldwide. Without treatment, it can lead to serious complications such as liver failure, nerve damage, and kidney damage.

Is Wilson’s Disease Dangerous?

Yes. If untreated, copper accumulation damages the liver, brain, and eyes. However, with early diagnosis and proper treatment, children can live a normal life.

Does the Child Require Lifelong Treatment?

Yes. Most children need continuous monitoring and lifelong treatment to prevent copper from accumulating again.

Can the Disease Be Prevented?

Wilson’s disease is genetic and cannot be prevented. However, early diagnosis and medication can prevent complications and reduce damage to the liver and brain.

Does the Child Need Dietary Changes?

Yes. It is recommended to avoid or limit foods high in copper, such as:

Nuts
Liver
Chocolate
Seafood

Stages of Wilson’s Disease in Children

1️⃣ Early Stage (Before Symptoms Appear)

Expected Age: Before 5–10 years
Symptoms: Often no obvious symptoms; mild elevation in liver enzymes may appear in tests.
Medical Goal: Early diagnosis before liver or brain damage occurs.

2️⃣ Hepatic Stage

Expected Age: 5–12 years
Symptoms: Enlarged liver or spleen, jaundice (yellowing of skin and eyes), nausea and vomiting, loss of appetite, bruising or bleeding, occasional abdominal fluid accumulation.
Impact: Copper accumulation causes liver damage and may lead to gradual fibrosis or liver failure.

3️⃣ Neurological and Behavioral Stage

Expected Age: After 10 years
Symptoms: Hand or head tremors, difficulty walking and balancing, involuntary movements, speech difficulties, behavioral changes such as irritability, aggression, and concentration problems.
Impact: Copper accumulation in the brain can cause permanent neurological problems if untreated.

4️⃣ Advanced Stage or Complications

Symptoms: Acute liver failure or advanced fibrosis, severe neurological problems, eye issues (Kayser-Fleischer ring), general weakness, and anemia.
Impact: Without treatment, the child is at risk of life-threatening complications.

Causes of Wilson’s Disease in Children

Wilson’s disease is caused by a genetic mutation in the ATP7B gene, responsible for removing copper from the liver. A child develops the disease if they inherit the defective gene from both parents (autosomal recessive).

Copper Excretion Problems:

The liver cannot remove copper into bile.
Copper gradually accumulates in the liver, then enters the blood, reaching the brain, kidneys, and eyes.

Effects of Copper Accumulation:

Liver: Inflammation and gradual fibrosis.
Nervous System: Tremors, difficulty moving or speaking.
Behavior: Mood swings, difficulty concentrating.

Important Notes:

Symptoms usually appear after age 5 but can vary between children.
Early diagnosis is critical to prevent liver and brain damage.

Types of Wilson’s Disease in Children

1️⃣ Hepatic Wilson (Liver Type)

Prevalence: More common in younger children (under 10 years).
Symptoms: Enlarged liver or spleen, jaundice, nausea, loss of appetite, bruising or bleeding.
Impact: Copper accumulation harms the liver and may lead to fibrosis or liver failure over time.

2️⃣ Neurological / Movement Wilson

Prevalence: More common in older children and adolescents (over 10 years).
Symptoms: Hand or head tremors, difficulty walking and balancing, speech difficulties, involuntary movements, behavioral changes like irritability, aggression, and concentration problems.
Impact: Copper accumulation in the brain can cause permanent neurological issues if untreated.

3️⃣ Mixed Type

Description: Children show both liver and neurological symptoms.
Symptoms: A combination of liver problems and tremors, movement difficulties, or unusual behaviors.
Impact: Requires careful monitoring and continuous treatment as copper affects both liver and brain simultaneously.

Effects of Wilson’s Disease on Children

1️⃣ Liver Effects:

Chronic liver damage: Copper buildup causes inflammation and gradual fibrosis.
Acute liver failure: In rare cases, the liver may stop functioning.
Elevated liver enzymes: Indicate internal damage even without obvious symptoms.
Fluid accumulation in the abdomen (ascites) or variceal bleeding.

2️⃣ Nervous System Effects:

Tremors or shaking of limbs and head.
Difficulty with movement and balance.
Muscle spasms and involuntary movements.
Behavioral and psychological changes: irritability, aggression, difficulty concentrating or learning.

3️⃣ Eye Effects:

Kayser-Fleischer ring: Brown or green ring around the cornea caused by copper deposition, which can affect the eyes if not treated early.

4️⃣ General Effects:

Anemia and general weakness due to copper’s effect on blood formation.
Delayed growth if the disease starts very early.
Increased risk of joint and bone problems due to copper accumulation.

How is Wilson’s Disease Diagnosed in Children?

Diagnosis requires a combination of clinical, laboratory, and genetic tests to confirm copper buildup and its effects on the liver, brain, and eyes.

1️⃣ Medical and Family History:

The doctor asks about the child’s health and family history of Wilson’s disease or other genetic disorders that may cause similar symptoms.

2️⃣ Clinical Examination:

Look for signs of liver damage, including jaundice, enlarged liver or spleen, ascites, or swelling in the legs and ankles.

3️⃣ Blood Tests:

Ceruloplasmin: Often low in affected children but not always definitive.
Copper in blood: May be low or high depending on liver condition.

Red Blood Cells Count and Hemoglobin

May show anemia.

Liver Enzymes (ALT & AST)

Usually elevated when liver damage is present.

4️⃣ 24-Hour Urine Copper Test

Urine is collected in a copper-free container for 24 hours.
Copper levels are measured; they are typically higher than normal in affected children.

5️⃣ Liver Biopsy

Performed if previous tests do not confirm the diagnosis.
A small liver sample is taken to assess liver damage, fibrosis, and copper content.

6️⃣ Genetic Testing

Detects the specific genetic mutations causing Wilson’s disease.
Helps monitor siblings and start treatment before symptoms appear.

7️⃣ Eye Examination

A slit-lamp exam is used to detect Kayser-Fleischer rings around the cornea due to copper buildup.
Sometimes other forms of cataracts may appear.

8️⃣ Imaging for Children with Neurological Symptoms

MRI (Magnetic Resonance Imaging): Provides detailed images of the brain and soft tissues without X-rays.
CT Scan (Computed Tomography): Uses X-rays and computer technology to show detailed brain images.

Important Advice:
Early diagnosis is crucial to prevent liver, brain, and eye damage and allows treatment to begin before permanent complications occur.

Symptoms of Wilson’s Disease in Children

Symptoms usually start in childhood or adolescence, though some adults may be diagnosed later. The most distinctive sign:

Kayser-Fleischer Ring:

A brown ring around the cornea, visible only with a slit-lamp eye exam.
Does not affect vision.

Other symptoms vary depending on the affected organ: liver, brain, blood, or musculoskeletal system.

1️⃣ Liver Symptoms (Copper Accumulation)

Jaundice: yellowing of skin, eyes, and mucous membranes.
Easy bruising and bleeding.
Nausea and vomiting (sometimes bloody).
Fatigue and loss of appetite.
Changes in stool and urine color: pale stool, dark urine.

Chronic liver disease or cirrhosis complications may include:

General weakness and unexplained weight loss.
Fluid accumulation in the abdomen (ascites).
Swelling of legs, ankles, or feet (edema).
Severe itching and intense jaundice.

2️⃣ Psychological Symptoms (Copper in the Brain)

Depression or anxiety.
Confusion or delirium.
Mood swings and emotional changes.
Aggressive or inappropriate behaviors.

3️⃣ Physical Neurological Symptoms

Difficulty speaking or swallowing.
Tremors in hands or arms.
Muscle stiffness (rigidity).
Difficulty walking or balance/coordination problems.

Parent Tip:
If any of these symptoms appear, consult a pediatrician or pediatric hepatologist immediately. Early diagnosis ensures treatment begins before permanent complications.

Complications of Wilson’s Disease in Children

1️⃣ Liver Complications

Acute liver failure: Sudden liver shutdown; occurs in ~5% of cases and may require liver transplantation.
Cirrhosis: Replacement of healthy tissue with scar tissue, impairing liver function.
Possible complications: ascites, limb swelling, enlarged spleen, esophageal varices, hepatorenal syndrome, and, in severe cases, hepatic encephalopathy.
Progression varies depending on copper accumulation.

2️⃣ Neurological Complications

Damage to brain regions such as basal ganglia and cerebellum.
Symptoms may mimic Parkinson’s or multiple sclerosis.
Movement and neuromuscular control issues: slowed movement, tremors, involuntary muscle spasms, difficulty walking and balancing, speech/swallowing problems, muscle rigidity, and rarely, seizures.

3️⃣ Psychological Complications

Depression, mood disorders, cognitive impairment.
Aggressive or impulsive behaviors, sometimes self-harm.
Rare psychotic episodes.

4️⃣ Hematological Complications

Hemolytic anemia: premature destruction of red blood cells due to oxidative stress.
Low platelets, increasing risk of bruising and bleeding.

5️⃣ Musculoskeletal Complications

Bone diseases: osteoporosis, osteomalacia, rickets, increased risk of spontaneous fractures.
Joint problems: cartilage erosion, polyarthritis, patellar cartilage softening, cartilage calcification (often in spine, hips, knees, wrists).
Growth delay due to weak bones and muscles.

6️⃣ Kidney Complications

Kidney issues may include: kidney stones, proteinuria, tubular dysfunction, aminoaciduria, high urinary calcium/phosphate, glucosuria, uric acid excess, and loss of bicarbonate and potassium.

Parent Advice:
Continuous medical follow-up is crucial to prevent complications. Early diagnosis allows treatment before permanent damage occurs.

Treatment of Wilson’s Disease in Children

Goals of Treatment:

Remove excess copper from the body.
Prevent copper from accumulating again.

1️⃣ Medication

A. Copper Chelating Agents

Bind copper in the blood and help eliminate it through urine.
Examples:
- D-Penicillamine: very effective but may cause rash, immune suppression, or liver/kidney issues.
- Trientine: fewer side effects, suitable for children sensitive to penicillamine.
Dosage determined by the doctor based on child’s weight and liver condition.

B. Zinc Supplements

Reduce copper absorption from food.
Examples: Zinc acetate or Zinc sulfate.
Often used long-term after copper removal.

C. Liver Support Medications

Used to strengthen liver function and protect it from inflammation or fibrosis.

Important Tips for Medication:

Follow doses strictly to ensure effectiveness.
Regular blood tests to monitor copper levels and liver function.
Dietary prevention: limit foods high in copper (nuts, chocolate, liver, seafood).
Treatment is usually lifelong because the body cannot naturally eliminate copper without medication.

2️⃣ Surgery: Liver Transplant

When used: Severe cases with complete liver failure, advanced fibrosis, or if medications fail.
Concept: Replace the diseased liver with a healthy donor liver capable of removing copper naturally.
Outcome: Most children live normal lives after transplantation.
Notes: Major surgery requiring lifelong follow-up; child needs immunosuppressive drugs post-transplant.

3️⃣ Laser Therapy

Not a direct treatment for Wilson’s disease.
Sometimes used for superficial eye problems or minor corneal damage, but it does not replace medications or surgery.
Main treatment remains medication and regular liver monitoring; laser has a very limited role.

Vitamins and Healthy Diet for Children with Wilson’s Disease

Children with Wilson’s disease often need vitamins and supplements because copper accumulation and liver problems may cause deficiencies, especially in fat-soluble vitamins.

1️⃣ Fat-Soluble Vitamins

Vitamin A: important for vision, growth, and skin health.
Vitamin D: essential for strong bones and immune support.
Vitamin E: antioxidant that protects body cells from damage.
Vitamin K: necessary for blood clotting, especially if the liver is affected.

2️⃣ Other Vitamins and Supplements

Vitamin C: antioxidant and immunity booster.
B Vitamins: support energy, brain, and nervous system functions.

Usage:

Dosages are determined by the doctor based on the child’s age, health, and liver function.
Note: Vitamins do not treat Wilson’s disease; they address deficiencies caused by the disease or medications.