'Medical University Prof. Dr. Paraskev Stoyanov - Varna'
Doi
Abstract
Introduction: Wilson`s disease is a rare genetic disorder characterized by excess copper, stored in various body tissues. It usually begins by six years of age, but in most cases presents clinically in the teenage years or early twenties. The disease normally affects the liver, the brain and the corneas of the eyes. Wilson`s disease is progressive and, if left untreated, may cause hepatic or central nervous system dysfunction, and even death. Early diagnosis and treatment may prevent serious long-term disability and life-threatening complications. Treatment is aimed at reducing the amount of copper that has accumulated in the body and maintaining normal copper levels thereafter.Materials and Methods: A girl at the age of 11 was hospitalized with complaints of fatigue, abdominal pain and oedema of the lower limbs. A physical examination revealed ascites in the abdomen and enlargement of the liver. Her laboratory results showed high levels of liver enzymes and low levels of ceruloplasmin. She had been hospitalized 6 times in 4 years. Her brother, age 9, was admitted to hospital due to epigastric pain, vomiting and dark faeces. He underwent a fibrogastroscopy, which diagnosed him with chronic gastritis and enteritis. His lab results showed low hemoglobin, high levels of ASAT and ALAT, and low ceruloplasmin. The youngest sister was hospitalized because of a paresis of the right facial nerve, vomiting and epigastric pain. Her examination lead to the diagnosis of her siblings.Results: All three kids were diagnosed with Wilson`s disease, despite their various presentation. There is a 25 % chance for all three of them to inherit the defective genes from both of their parents.Conclusion: In conclusion, Wilson`s disease is a great imitator - it can be mistaken for many illnesses and the key to its diagnosis is an enzyme called ceruloplasmin
