Kivlin J D, Sanborn G E, Myers G G
Ann Neurol. 1985 Apr;17(4):356-60. doi: 10.1002/ana.410170409.
The disappearance of the cherry-red spot in an otherwise typical patient with Tay-Sachs disease is described and illustrated. This clinical observation has rarely been made, but it is consistent with the pathological finding of loss of retinal ganglion cells. Disappearance of the cherry-red spot has also been observed in GM1 generalized gangliosidosis, the sialidoses known as the cherry-red spot-myoclonus syndrome and the Goldberg syndrome, and Niemann-Pick, type C disease. Thus the absence of a cherry-red spot in the neurologically impaired child or adult does not exclude these diagnoses.
本文描述并举例说明了患有典型泰-萨克斯病的患者樱桃红斑消失的情况。这种临床观察很少见，但与视网膜神经节细胞缺失的病理发现一致。在GM1型全身性神经节苷脂病、被称为樱桃红斑-肌阵挛综合征的唾液酸沉积症、戈德堡综合征以及尼曼-皮克C型病中也观察到了樱桃红斑的消失。因此，神经功能受损的儿童或成人没有樱桃红斑并不能排除这些诊断。
