First Case of Wilson’s Disease in Ghana Detected in 13-Year-Old Boy at Korle Bu Teaching Hospital

The Child Health Department at the Korle Bu Teaching Hospital (KBTH) in Accra has reported a significant medical milestone: the detection of the first documented case of Wilson’s Disease in Ghana.

This rare genetic disorder was identified in a 13-year-old boy, marking a unique occurrence in the country’s medical history, according to a report by Graphic.com.gh.

Wilson’s Disease is a fatal genetic disorder that affects approximately one in 30,000 individuals in developed countries.

The diagnosis was made after the boy’s mother, a trader, noticed a decline in her son’s handwriting, prompting further medical investigation.

Professor Ebenezer Badoe, Head of the Neuro-Developmental Clinic at KBTH, confirmed the diagnosis through extensive testing.

Wilson’s Disease results in the excessive accumulation of copper in the body’s organs, particularly the liver, brain, and eyes, due to the body’s inability to eliminate copper properly.

Symptoms typically manifest between ages 12 and 23 and may include swelling, fatigue, abdominal pain, and poorly coordinated movements.

In this case, the boy’s condition had advanced, affecting his brain and motor skills, resulting in noticeable changes in his handwriting and gait.

Further diagnostic assessments revealed the presence of Kayser-Fleischer rings, indicating copper deposits in the eyes.

Treatment for Wilson’s Disease is lifelong and aims to manage copper levels in the body. The boy’s treatment costs GH¢450 per month and is crucial for his long-term well-being.

Professor Badoe emphasized the importance of continuous treatment, as stopping medication could lead to acute liver failure and potentially death.

Genetic testing confirmed that both parents were carriers of the Wilson’s Disease gene, highlighting the autosomal recessive inheritance pattern of the condition.

The KBTH team collaborated with the NGO Reg Disease Ghana and conducted advanced genetic testing in the United States to verify the diagnosis.

Professor Badoe appealed to the public for financial support to sustain the boy’s treatment, emphasizing the importance of early detection and intervention.

He commended the boy’s mother for her attentiveness, which led to the critical diagnosis and subsequent medical care at KBTH.

For those interested in contributing to the boy’s ongoing treatment, please contact the Child Health Department at Korle Bu Teaching Hospital.