Abetalipoproteinaemia

Ok, so this isn't a common one!

aka Bassen Kornzweig syndrome (it was described by them in 1950 in Blood as malformed erythrocytes in a case of atypical retinitis pigmentosa)

There is a failure of apo B-100 synthesis in the liver and apo B-48 in the intestine. This means that chylomicrons can't be formed. So fat accumulates in the gut. The jejunal mucosa gets a typical appearance.

As is is inborn it often presents in the first few months of life

You also get acanthocytosis which is spiky red cells because of abnormalities in the red cell membranes

Treat with vitamin E

It is associated with:

• retinitis pigmentosa
• mental retardation
• neurological abnormalities (eg. ataxia)
• low cholesterol (cos you ain't absorbing fat)
• inherited autosomal recessive (Ashkenazi Jews)
• low vitamin ADEK (the fat solubles ones!)