Abstract
Microvillus inclusion disease (MVD) is a rare autosomal recessive disease that was first discovered in 1978 by Davidson et al., with significant mortality and morbidity within the first year of life. It presents mainly with abdominal symptoms like diarrhoea, abdominal distension, vomiting electrolyte imbalance. Sometimes, depending on the genetic mutation involved, the phenotypic manifestation can vary. Certain genetic mutations are associated with cholestasis, dilated bowel loops, and metabolic acidosis, whereas some present with nystagmus and reduced visual acuity. Electron microscopy of the duodenal biopsy sample is used as a diagnostic tool. Absence or shortening of apical microvilli with microvillus inclusion bodies in mature enterocytes, which are pathognomonic to MVD alongside periodic acid Schiff (PAS)-positive granules or vesicles in the immature enterocytes.