Hadfield M G, Mamunes P, David R B
J Pathol. 1977 Nov;123(3):137-44. doi: 10.1002/path.1711230303.
We have presented the morbid anatomy of a case of Sandhoff's disease and have attempted to outline morphologic differences which distinguish this entity from other GM2 gangliosidoses. Yet, it may be well to maintain a sceptical eye. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are overshadowed by the similarities. For these reasons, a definitive diagnosis must rest with the biochemist. Nevertheless, if many bizarre MCB's are encountered, the enzyme defect may be expected to differ from that of classical Tay-Sachs disease and, when seen in endothelial cells, they favour Sandhoff's disease. More importantly, if prominent visceral storage is found, and especially if it extends beyond the reticuloendothelial system to involve such selective sites as the kidneys and pancreas, Sandhoff's disease should immediately come to mind. For the pathologist, it is this latter point which more readily sets apart Sandhoff's disease from related GM2 gangliosidoses.
我们展示了一例桑德霍夫病的病理解剖情况，并试图概述将该病症与其他GM2神经节苷脂沉积症区分开来的形态学差异。然而，保持怀疑态度可能是明智的。泰-萨克斯病及其变体之间的解剖学差异更多是数量上的而非质量上的，且被相似性所掩盖。出于这些原因，明确的诊断必须依靠生物化学家。尽管如此，如果遇到许多怪异的髓样小体，酶缺陷可能与经典泰-萨克斯病不同，并且当在内皮细胞中看到时，它们提示桑德霍夫病。更重要的是，如果发现明显的内脏蓄积，特别是如果它超出网状内皮系统累及肾脏和胰腺等特定部位，应立即想到桑德霍夫病。对于病理学家来说，正是后一点更容易将桑德霍夫病与相关的GM2神经节苷脂沉积症区分开来。
