Niemann-Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Different clinical forms have been defined based on patient age at onset: perinatal, early-infantile (EI), late-infantile (Li), juvenile and
3 infants wih the acute neuronopathic form of Niemann-Pick disease had prominent gastrointestinal manifestations. These included chronic diarrhea, malnutrition, failure to thrive, radiologic intestinal abnormalities, xylose malabsorption, abnormal liver function, and infiltration of the liver,