Familial Steatorrhoea with Calcification of the Basal Ganglia and Mental Retardation

Four children, two boys and fraternal twin girls, of a sibshipof 16 suffered from malabsorption, mental retardation with calcificationof the basal ganglia, and episodes of pseudo-obstruction. Thesimilarity of clinical features and investigations suggesteda congenital disorder and its frequency indicated an autosomalrecessive mode of inheritance. Histological studies of the wholealimentary canal removed at necropsy showed degenerate changesin the argyrophobe cells. These cells produce the transmittersubstance 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 associationof malabsorption and mental retardation.