- hepatolenticular degeneration
- autosomal recessive
- excess copper retention
- chromosome 13 alteration – liver unable to excrete copper into bile
- 7-50 years
- hepatic findings in children
- neuropsychiatric findings in adults
stages
| Stage 1 | asymptomatic copper accumulation in liver cytosol |
| Stage 2 | redistribution of copper from hepatic lysosomes. when gradual it is asymptomatic, if rapid redistribution, presents with fulminant hepatic failure or acute intravascular hemolysis |
| Stage 3 | cirrhosis, neurologic, ophthalmic, renal dysfunction |
clinical picture and imaging
- tremors, rigidity, dysarthria, dysphagia
- intellectual impairment, emotional disturbance
- jaundice, portal hypertension
- Kayser-Fleischer ring – green pigmentation around limbus cornea
- generalized deossification and secondary pathological fractures
- knees, hips, wrists, 2-4th MCP joints
- subarticular cysts, early osteoarthritis, chonedrocalcinosis,
- basal ganglia and thalami T1 and T2 prolongation, hypo attenuation in CT
labs
- elevated copper in serum ceruloplasmin