Hepatocerebral dystrophy

Hepatocerebral dystrophy (hepatolenticular degeneration) is a hereditary disease that usually occurs between the ages of 10 and 35 years and is characterized by a disruption in the synthesis of proteins and the exchange of copper, a progressive lesion of the subcortical ganglia and liver.

Etiology, pathogenesis. Hereditary disruption of the synthesis of copper-binding protein - ceruloplasmin, which results in excessive accumulation of toxic doses of copper in the subcortical ganglia, liver, kidneys. Morphological changes of the nervous system, as expressed in the shell, are represented by degeneration of the ganglion cells and growth of the neuroglia. With computer tomography, diffuse brain atrophy and foci of reduced density in the region of the basal ganglia are found in about half of the treated patients. The defeat of the liver is a multi-lobed cirrhosis, which is often accompanied by splenomegaly. The deposition of copper along the periphery of the cornea underlies the specific sign of the disease - the corneal ring of the Kaiser-Fleischer ring.

Symptoms, course. The first manifestations of the disease are the choreiform jerking of the face and hands; In other cases parkinson-like stiffness is advanced to the fore, complicated by athetosis and a large tremor. When trying to spread his hands in the sides there is a large hyperkinesis, reminiscent of the wings of the wings of a bird. Later develop contractures, upset swallowing and articulation. The face is masklike, often there is a frozen smile, violent laughter and crying. In all cases, there is dementia. In the late stages there are severe trophic disorders, combined with signs of hepatic insufficiency. Pyramidal symptoms are rare, there is usually no sensitivity disorder. The core of the clinical picture throughout the disease is complex subcortical disorders. In the blood, the content of ceruloplasmin and copper is decreased, the content of copper and amino acids not connected with ceruloplasmin is increased in urine.

Diagnosis in the severity of clinical and paraclinical signs (tremor, rigidity, corneal ring, hepatic pathology, disturbance of copper metabolism) is simple.

Treatment. Daily intake of D-penicillamine (kurrenyla) to 1.5 g throughout life.

Forecast. Timely initiation of treatment often ensures the normal development of children, a significant mitigation of neurologic symptoms and even their complete disappearance in adults. If there is a child with hepatocerebral dystrophy in the family, it is not recommended to have more children.