Familial Steatorrhoea with Calcification of the Basal Ganglia and Mental Retardation

Abstract

Four children, two boys and fraternal twin girls, of a sibship of 16 suffered from malabsorption, mental retardation with calcification of the basal ganglia, and episodes of pseudo-obstruction. The similarity of clinical features and investigations suggested a congenital disorder and its frequency indicated an autosomal recessive mode of inheritance. Histological studies of the whole alimentary canal removed at necropsy showed degenerate changes in the argyrophobe cells. These cells produce the transmitter substance acetyl choline which initiates the smooth-muscle contraction. Their loss could explain the dilated bowel with attacks of pseudo-obstruction. Similar changes in brain-cells might explain this association of malabsorption and mental retardation.