Gut 20:163-168 doi:10.1136/gut.20.2.163
  • Research Article

Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.


A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It is likely that there are different genetic entities with similar end results.