clinical features
Last reviewed 01/2018
Abetalipoproteinaemia is characterised by:
- pigmentary retinal degeneration
- ataxia
- areflexia
- steatorrhoea
- motor tics
The disorder is slowly progressive:
- initial presentation is often during childhood:
- failure to thrive
- steatorrhoea
- low serum lipid concentrations may be noted
- acanthocytosis may be noted
- in adolesence:
- ataxia
- intention tremor
- nystagmus
- areflexia
- muscle weakness
- in adulthood:
- intelligence is usually normal
- there may be emotional lability
- verbal and motor tics may develop which resemble Tourette's syndrome
- a late manifestation is retinitis pigmentosa