Martin J J, Leroy J G, Farriaux J P, Fontaine G, Desnick R J, Cabello A
Acta Neuropathol. 1975 Dec 30;33(4):285-305. doi: 10.1007/BF00686161.
The single most characteristic morphological feature in I-cell disease (ICD) is the accumulation of membrane-bound vacuoles in mesenchymal cells (mainly fibroblasts). No true storage can be documented in those vacuoles. That their contents could have been dissolved during fixation or embedding remains however a possibility. Remnants consisting of a few lamellar arrays and of small amounts of fibrillo-granular material are too scarce for histochemical characterization. In hepatocytes large cells in the white pulp of the spleen and in myocardial fibers, vacuoles with fixative insoluble contents have been discovered; they are nowhere very abundant and their specificity is questionable. Because the affected fibroblastic elements represent a small fraction in any organ, most secondary biochemical abnormalities are expected to be detectable only in purely fibroblastic tissues. Our pathological study contributes to the understanding of some of the clinical features characteristic of ICD and stresses major morphological differences between ICD and the many diseases classified as mucopolysaccharidoses and mucolipidoses.
I细胞病（ICD）最具特征性的形态学特征是间充质细胞（主要是成纤维细胞）中膜结合空泡的积累。在这些空泡中未发现真正的储存物质。然而，其内容物有可能在固定或包埋过程中被溶解。由少量层状排列和少量纤维颗粒物质组成的残余物太少，无法进行组织化学特征分析。在肝细胞、脾白髓中的大细胞和心肌纤维中，已发现含有固定剂不溶性内容物的空泡；它们在任何部位都不丰富，其特异性也值得怀疑。由于受影响的成纤维细胞成分在任何器官中只占一小部分，预计大多数继发性生化异常只能在纯成纤维组织中检测到。我们的病理学研究有助于理解ICD的一些临床特征，并强调了ICD与许多被归类为粘多糖贮积症和粘脂贮积症的疾病之间的主要形态学差异。
