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All you need to know about the deadly disease recorded at Korle Bu Teaching Hospital

Recently, the Child Health Department of the Korle Bu Teaching Hospital reported on an uncommon case of Wilson’s disease.

There is a 13-year-old boy who has the illness.

According to statistics, this is the first occurrence of its kind in the nation; in industrialized countries, it normally affects one person out of every 30,000.

The boy’s mother, a trader, sought medical care after seeing a deterioration in her son’s penmanship, which led to the diagnosis.

The diagnosis was made by Professor Ebenezer Badoe, Head of the Neuro-Developmental Clinic in the Department of Child Health at KBTH, after extensive investigations.

Even though the hereditary disease is severe, Professor Badoe expressed hope for potential treatments.

Even though the illness is manageable with medication, he voiced concern about the financial strain it causes.

Sustaining the boy’s health would require approximately GH¢450 per month, emphasizing the necessity for ongoing support to ensure his well-being.

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All you need to know about Wilson disease

Wilson disease, also known as hepatolenticular degeneration, is a rare inherited disorder that leads to excessive accumulation of copper in the body. Here’s a comprehensive overview:


Wilson disease is caused by mutations in the ATP7B gene, which encodes a protein responsible for regulating copper transport and elimination. These mutations impair the body’s ability to excrete copper, leading to its accumulation, primarily in the liver and brain.


Symptoms can vary widely and may affect multiple organ systems:

Hepatic (Liver) symptoms:

  • Hepatitis
  • Liver failure
  • Cirrhosis
  • Jaundice
  • Abdominal pain

Neurological symptoms:

  • Tremors
  • Poor coordination
  • Difficulty speaking
  • Dystonia (muscle contractions)
  • Behavioral changes

Psychiatric symptoms:

  • Depression
  • Anxiety
  • Psychosis
  • Personality changes


Other Symptoms:

  • Kayser-Fleischer rings (copper deposits in the cornea)
  • Hemolytic anemia
  • Diagnosis

Diagnosing Wilson disease typically involves a combination of the following:

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Clinical evaluation: Physical examination for signs such as Kayser-Fleischer rings.

Wilson Disease

Laboratory tests:

Serum ceruloplasmin levels (often low in Wilson disease)

Serum copper levels (can be low, but free copper is elevated)

24-hour urinary copper excretion (usually elevated)

Liver Biopsy: To measure hepatic copper content.

Genetic Testing: Identifying mutations in the ATP7B gene.


The main goal of treatment is to reduce copper accumulation and prevent its effects. Treatments include:

Chelation therapy:

Penicillamine or Trientine: Medications that bind to copper and help its excretion through urine.
Zinc Acetate: Increases copper excretion via stool by blocking copper absorption in the intestines.

Dietary modifications:

Avoiding copper-rich foods (e.g., shellfish, liver, mushrooms, nuts, chocolate).

Liver Transplant: In severe cases, particularly those with advanced liver disease or acute liver failure.


With early diagnosis and appropriate treatment, many individuals with Wilson disease can lead normal lives.

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However, untreated Wilson disease can be fatal due to liver failure or severe neurological impairment.

Regular follow-up is crucial for managing Wilson disease. This includes monitoring copper levels, liver function tests, and adherence to treatment protocols.

Ongoing research aims to better understand Wilson disease and develop more effective treatments. Gene therapy and new chelating agents are areas of active investigation

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