Kotagal S, Wenger D A, Alcala H, Gomez C, Horenstein S
Neurology. 1986 Mar;36(3):438-40. doi: 10.1212/wnl.36.3.438.
A child with AB variant GM2 gangliosidosis who had progressive intellectual deterioration and seizures commencing at the age of 12 months is described. Neuronal loss, and neuronal and astrocytic inclusions characteristic of the gangliosidoses, were seen on cortical biopsy. GM2 ganglioside was detected in the CSF. As CNS ganglioside accumulation in this condition occurs in the presence of normal leukocyte hexosaminidase A and B levels, spinal fluid assay for GM2 ganglioside may serve as a valuable aid in diagnosis.
本文描述了一名患有AB变异型GM2神经节苷脂贮积症的儿童，该患儿12个月大时开始出现进行性智力衰退和癫痫发作。皮质活检可见神经节苷脂贮积症特有的神经元丢失以及神经元和星形胶质细胞包涵体。脑脊液中检测到GM2神经节苷脂。由于在这种情况下中枢神经系统神经节苷脂的蓄积是在白细胞己糖胺酶A和B水平正常的情况下发生的，因此脑脊液GM2神经节苷脂检测可能有助于诊断。
