Familial Hypobetalipoproteinemia: Report of a Case With Psychomotor Retardation

Abstract

Familial hypobetalipoproteinemia as a clinical entity is as yet ill defined and poorly understood. The only consistent manifestation is reduced serum content of cholesterol and betalipoprotein. Four kindreds have been reported and of these only one person has clinical evidence of disease.^1-4 This was characterized by signs and symptoms of progressive demyelinization of the central nervous system, lack of responsiveness to local anesthesia, and dislike of animal fats and milk.¹

This report describes a fifth family. The propositus demonstrated delayed psychomotor development in addition to hypobetalipoproteinemia. Twenty-two members of his family were screened for serum lipoproteins, cholesterol, and triglyceride content; eight were found to have hypobetalipoproteinemia.