Dinari G, Rosenbach Y, Grunebaum M, Zahavi I, Alpert G, Nitzan M
Enzyme. 1980;25(6):407-12. doi: 10.1159/000459289.
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, lamina propria and autonomic ganglia by lipid-laden cells. Possible pathogenetic mechanisms are discussed, and it is suggested that gastrointestinal disturbances play a larger part in the clinical manifestations of Niemann-Pick disease than is usually appreciated.
3例患有急性神经元型尼曼-匹克病的婴儿有明显的胃肠道表现。这些表现包括慢性腹泻、营养不良、发育不良、放射学检查发现的肠道异常、木糖吸收不良、肝功能异常以及充满脂质的细胞浸润肝脏、固有层和自主神经节。文中讨论了可能的发病机制，并指出胃肠道紊乱在尼曼-匹克病的临床表现中所起的作用比通常认为的更大。
