Hepatolenticular degeneration (Wilson disease)
Hepatolenticular degeneration (Wilson disease) is a grave progressing disease, in which the injury of the central nervous system (CNS), mostly of subcortical structures, combines with liver pathology. The disease is hereditary, of autosomal-recessive type; characterized by the subcortical damage of the brain and liver. The clinical picture exhibits signs of muscular dystrophy, chronic tremor of the extremities, mental disorders and epileptic fits. Copper exchange seems to be important in the pathogenesis of the disease. The genetic defect is associated with the ceruloplasmin, a copper binding enzyme, which is a part of alpha-2-globuline. Excessive copper is accumulated in the internal organs and brain and provides toxic effect.
Laboratory tests show downregulated level of ceruloplasmin (or it is absent), increased copper level and the signs of liver insufficiency. The clinical picture consists of the symptoms of the damage of internal organs and nervous system. Half of the patients develop severe damage of liver with jaundice, hepato- and splenomegaly, ascites, fever with hemorrhagic syndrome and gastrointestinal disorders. Most of the patients have the signs of the hemorrhagic diathesis: bleeding nose, gingival and skin hemorrhage. Profuse esophagogastric hemorrhages are a frequent reason of death. Nervous disorders are presented by the extrapyramidal abnormalities: rigidity that includes trunk and limbs muscles as well as the muscles involved in swallowing and speech. Amimia, dysphagia and dysarthria are observed. The gait becomes constrained and bouncing.
Muscle rigidity usually combines with the compulsory movements of non-rhythmical character: athetotic and torsion-spastic hyperkinesia. Rigidity increases and leads to complete immobility. Shaking can be general, involving face, head and eye-balls muscles. The speech becomes chanting and shaking. The tremor is absent in the rest, but notable in emotional and physical strain. Spasmodic laughter or compulsive weeping, disordered vegetative functions are frequent. Mental changes broadly vary from emotional-volitional disorders to complete dementia. Kayser Fleischer corneal rings, which is a copper deposition in the cornea periphery, is a pathognomic sign. The pathogenetic therapy implies removal of the copper deposits from the organism. Such drugs as penicillamine, cuprenil, metalkaptase are administered.
