Hepatocerebral syndrome

Hepatocerebral syndrome: understanding, symptoms and treatment

Hepatocerebral syndrome, also known as Konovalov's hepatocerebral syndrome, is a rare genetic disorder that affects the function of the liver and central nervous system. This syndrome is characterized by disturbances in copper metabolism and leads to the accumulation of this trace element in the body, especially in the liver and brain. This results in a variety of symptoms that may vary depending on the severity of the disease.

The main symptoms of hepatocerebral syndrome are neurological disorders and liver dysfunction. Patients experience movement disorders such as tremors of the limbs, gait instability, and muscle hypotonia. There is also progressive ataxia, which affects coordination of movements. Other neurological symptoms may include delayed psychomotor development, mental disturbances, seizures and behavioral changes.

Liver dysfunction associated with hepatocerebral syndrome manifests itself in the form of hepatomegaly (increase in liver size), jaundice, portal hypertension and cirrhosis. These symptoms are associated with impaired copper metabolism, which leads to its accumulation in the body and liver damage.

The cause of hepatocerebral syndrome is genetic mutations affecting media transport proteins in the body. One of the most common genetic mutations causing this syndrome is a mutation in the ATP7B gene, which is responsible for copper transport from the liver. This leads to disruption of copper metabolism and its accumulation in the body.

Diagnosis of hepatocerebral syndrome is usually based on clinical examination, blood and urine copper testing, and genetic testing to identify mutations in genes associated with the syndrome. Early detection and diagnosis play an important role in initiating treatment and managing symptoms.

Treatment for hepatocerebral syndrome is aimed at reducing copper levels in the body and managing symptoms. The main treatment method involves the use of chelating agents such as penicillamine and trientine. These medications help remove excess copper from the body through the kidneys. Other medications, such as zinc acetate and dimethyl oxide, may also be used to lower copper levels. Additionally, medications may be prescribed for symptomatic treatment, for example, anticonvulsants or drugs to improve motor coordination.

An important aspect of managing hepatocerebral syndrome is long-term observation and monitoring of the patient's condition. Regular visits to your doctor and the necessary tests will help you monitor your copper levels and evaluate the effectiveness of treatment.

In some cases, when liver failure becomes severe or does not respond to treatment, a liver transplant may be required. Liver transplantation may be considered as a treatment option for patients with advanced liver dysfunction.

It is important to note that hepatocerebral syndrome is a chronic disease, and treatment is aimed at managing symptoms and slowing the progression of the disease. Early treatment and regular follow-up by specialists can help improve the prognosis and quality of life of patients.

In conclusion, hepatocerebral syndrome or Konovalov's syndrome hepatocerebral syndrome is a rare genetic disorder characterized by abnormal copper metabolism and manifests as neurological symptoms and hepatic dysfunction. Early diagnosis, treatment and regular follow-up by specialists play a key role in managing this condition and improving the lives of patients.

**Hepato-cerebral insufficiency syndrome** is one of the diseases that belongs to polyetiological groups. Along with this, this is an extremely severe violation of coordination and blood circulation in the brain, due to structural damage to the spinal cord, brain and peripheral nervous system, and the disease is caused by a pathological process in the liver.

Signs of this syndrome are **weakness, nausea, noise in