Clinical features
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
Related pages
Create an account to add page annotations
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.