Nardocci N, Bertagnolio B, Rumi V, Angelini L
Department of Child Neurology, Istituto Nazionale Neurologico, Besta, Milan, Italy.
Mov Disord. 1992;7(1):64-7. doi: 10.1002/mds.870070113.
A 9-year-old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances. The values of beta-hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG-NAc and MUG-NAc-6-S) were significantly reduced but higher than in Tay-Sachs disease and similar to those found in the juvenile chronic form of GM2 gangliosidosis. With anticholinergic therapy, for 1.5 years, the dystonic symptoms did not progress and the boy can still care for himself and attend school. The description of another case of the disease, clinically expressed as dystonia, corroborates the existence of a dystonic phenotype of GM2 gangliosidosis.
一名9岁男孩自4岁起出现进行性全身肌张力障碍，并伴有智力衰退和行为障碍。使用两种不同底物（MUG-NAc和MUG-NAc-6-S）对血浆、白细胞和成纤维细胞中β-己糖胺酶活性进行检测，结果显示其活性显著降低，但高于泰-萨克斯病患者，与青少年慢性型GM2神经节苷脂沉积症患者的检测结果相似。经过1.5年的抗胆碱能治疗，肌张力障碍症状未进展，该男孩仍能自理并上学。对另一例临床表现为肌张力障碍的该疾病病例的描述，证实了GM2神经节苷脂沉积症存在肌张力障碍表型。
