Synonyms:
a.k.a. hepatolenticular degeneration:
Diagnosis:
- Slit lamp examination: Kayser Fleischer rings Golden Brown Corneal deposits
- Neurological: wing-beathing tremor & facial dystonia (sardonic smile), cognitive deficits, neuorpsychiatirc symptoms
- Ceruloplasmin: low, <20 mg/dL
- 24 hr Urinary copper excretion: increased >100 micrograms
MRI:
- T2: Increased signal (but variable) in striatum, Midbrain, Pons, dentate nucleus, white matter lesions
- T1: usually bright signal
Genetics:
- Autosomal recessive
- ATP7B gene,
Pathology:
- Alzheimer type 1 astrocytes (large abundant cytoplasm)
- Oplaski cells in basal ganglia
Investigations to consider:
Blood tests: FBC, U&E, LFTs
Ceruloplasmin: low
Copper: low, 24 hr Urinary copper excretion: increased
Slit lamp examination
Liver biopsy: increased copper weight
MRI
Penicillamine challenge +urinary copper
Monitor:
- FBC
- Slit lamp examination
Screening:
1st line:
- Slit lamp examination
- Ceruloplasmin
2nd line:
- Copper: low
- Urinary copper excretion: increased
3rd line:
- Consider Liver biopsy: copper
Treatment:
Genetic counselling
1st line:
- D-Penicillamine oral monitor FBC +pyridoxine B6
- Others:
- Tetrathiomolybdate or trientine
- Zinc sulfate P.O.
Restrict copper intake:
- Shell fish, internal organs, legumes
- Liver transplant
Screen siblings