Microvillus Inclusion Disease: An Inherited Defect of Brush-Border Assembly and Differentiation

IN 1978 we described a group of infants who presented with an apparently familial enteropathy characterized by protracted diarrhea from birth and hypoplastic villous atrophy.1 Electron microscopical examination of surface enterocytes in a jejunal biopsy specimen from one of these patients revealed peculiar intracytoplasmic inclusions composed of neatly arranged brush-border microvilli. Similar intracytoplasmic inclusions have since been reported in five other infants, all of whom had protracted diarrhea starting at or soon after birth.2 3 4 The constellation of early protracted diarrhea with enterocyte microvillus inclusions has been called congenital microvillus atrophy,2 , 3 congenital familial protracted diarrhea with enterocyte brush-border abnormalities, or Davidson's . . .