Symptoms
The symptoms of Wilson’s disease in children can be quite varied and often depend on the organs affected. They
typically fall into two main categories: liver problems, and brain issues.
1. Liver Involvement
->> Hepatomegaly (Enlarged Liver): Children may present with an enlarged liver.
->> Jaundice: Yellowing of the skin and eyes due to liver dysfunction is a common sign.
->> Ascites and Edema: Fluid accumulation in the abdomen (ascites) or swelling in the legs and feet.
->> Chronic Liver Disease: Over time, liver damage can lead to scarring (cirrhosis), which may present with
symptoms like fatigue, easy bruising, and a tendency to bleed.
2. Neurological Symptoms
–>> Movement Disorders: Children may develop tremors, dystonia (muscle rigidity), and difficulty with coordination.
–>> Speech and Swallowing Issues: Difficulty with speech, swallowing, or even facial expressions
–>> Parkinsonism: Parkinson-like symptoms such as slow movements, muscle stiffness, and difficulty initiating
movement.
–>> Cognitive Decline: WD can also affect memory and cognitive function, resulting in learning difficulties or a
decline in school performance.
Diagnostics
Diagnosing Wilson’s disease in children can be challenging due to the variety of symptoms that mimic other
conditions. Doctors usually begin the diagnostic process with a thorough medical history, physical examination,
and a series of laboratory tests.
Key Diagnostic Tests Include:
>>> Serum Ceruloplasmin Levels: A low level of ceruloplasmin, a copper-carrying protein, is often a strong
indicator of WD.
>>> 24-Hour Urinary Copper Excretion Test: Elevated urinary copper levels are a hallmark of WD.
>>> Liver Biopsy: In some cases, a biopsy may be performed to assess copper content in the liver tissue.
>>> Slit-Lamp Examination: A slit-lamp exam can detect Kayser-Fleischer rings, which are copper deposits that
appear in the cornea of the eye and are characteristic of WD.
>>> Genetic Testing: Mutations in the ATP7B
Treatment
While WD is a lifelong condition, it is treatable, especially when detected early. The goal of treatment is to remove excess copper from the body, prevent further accumulation, and manage the symptoms.
1. Copper Chelation Therapy
Penicillamine and Trientine: These medications bind to excess copper in the body and help eliminate it through the urine. They are commonly used in children with WD.
2. Zinc Therapy
Zinc Sulfate: Zinc blocks the absorption of copper from food in the intestines, reducing the amount of
copper that enters the bloodstream. It is often used in combination with chelation therapy or in milder
cases.
3. Liver Transplantation
In severe cases, particularly when cirrhosis or liver failure occurs, a liver transplant may be necessary. A liver transplant can effectively remove the source of copper buildup.
4. Dietary Modifications
Children with Wilson’s disease may be advised to avoid foods rich in copper, such as shellfish,mushrooms, and chocolate, although diet alone is not sufficient to manage the condition.
5. Ongoing Monitoring
Regular monitoring is essential to assess the effectiveness of treatment and adjust medication dosages. This typically involves blood tests, urine tests, and sometimes liver function tests. Neurological and psychiatric assessments are also important to monitor for any progression or changes in symptoms.
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