Abetalipoproteinemia presenting with congestive cardiac failure.

Abetalipoproteinemia is an uncommon autosomal recessive disease in which affected individuals are incapable of normally synthesising betalipoprotein. This disorder has five basic features, abetalipoproteinemia, malabsorption of fat, acanthocytosis, retinitis pigmentosa and ataxic neuropathy(1). Though only a few cases have been published in the literature(2), abetalipoproteinemia has attracted attention of a variety of specialists including neurologists, gastroenterologists and ophthalmologists. We report a case of this rare disorder, which presented with unusual manifestations.