cerebral pseudosclerosis

[rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years. ( CSP )]

UMLS (CSP) C0019202

Disease or Syndrome

Relation/PAR: Amino Acid Metabolism, Inborn Errors
basal ganglia disease
Disorder of eye, unspecified
Hepatic Disorder
inborn metal metabolism disorder
movement disorder
Heredodegenerative Disorders, Nervous System
Brain Diseases, Metabolic, Inborn

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