A- -lipoproteinaemia

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Abstract
A 7-year-old boy who presented with diarrhea in early infancy was found to have a-[beta]-lipoproteinemia. The typical features of the syndrome, i.e. steatorrhea, acanthocytosis, retinal degenerative changes, and an ataxic neuropathy were all present. He was also mentally retarded, a finding reported in 3 other patients with this condition. His parents" marriage was consanguineous and the serum from several relatives including both parents showed increased concentrations of [beta] -lipoprotein. The pathogenesis of the various features is discussed and it is suggested that prolonged absence of [beta] -lipoprotein from the serum may play a part in the changes found in the erythrocytes, retina, and central nervous system.