Reye dystrophy

Reye dystrophyREYE DYSTROPHY (gepatolentikuliarnaya degeneration) is a hereditary disease, usually occurring between the ages of 10 to 35 years and is characterized by a disturbance of protein synthesis and metabolism of copper, progressive lesions of the subcortical ganglia and liver. Etiology, pathogenesis. Hereditary disturbance of synthesis medicative protein ceruloplasmin, which causes excessive accumulation of toxic doses of copper in the subcortical ganglia, liver, kidneys. Morphological changes of the nervous system, most pronounced in the shell represented by the degeneration of the ganglion cells and proliferation of glial cell has. When computed tomography revealed diffuse atrophy of the brain and pockets of low density in the region of the basal ganglia in about half of treated patients. The liver is in the nature of mnogozhalcata cirrhosis, which is often accompanied by splenomegaly. The deposition of copper on the periphery of the cornea lies at the basis of a specific symptom of the disease - rogovich ring Kayser - Fleischer. The symptoms for. The first manifestations of the disease - choreiform twitching of the face and hands; in other cases, priority was given to parkinsonopodobnyy rigidity, complicated acetosa and large tremor. When you try to move her arms in side there is a large hyperkinesis, resembling the wings of birds. Later develop contractures, upset swallowing and articulation. Face Mashabane, it is often stated frozen smile, forced laughter and crying. In all cases, there is dementia. In later stages there severe trophic disorder, combined with signs of liver failure. Pyramidal symptoms rare disorders the sensitivity is usually not. The core of the clinical picture throughout the disease are complex subcortical disorders. In the blood decreased levels of ceruloplasmin and copper, enhanced content related to non-ceruloplasmin copper and amino acids in the urine. Diagnosis by clinical and paraclinic-ical signs (tremor, rigidity, corneal ring, hepatic pathology, disorders of copper metabolism) simple. Treatment. A daily intake of D-penitsillamin (cuprinol) to 1.5 g for all life. The forecast. Timely initiation of treatment often provides the normal development of children, a significant easing of neurological symptoms and even their complete disappearance in adults. In the presence of a child with Reye dystrophy to have more children is not recommended..



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