Tanaka R, Momoi T, Yoshida A, Okumura M, Yamakura S, Takasaki Y, Kiyomasu T, Yamanaka C
Department of Paediatrics, Wakayama Red Cross Hospital, Japan.
J Neurol. 1995 May;242(5):299-303. doi: 10.1007/BF00878872.
An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 GM1 gangliosidosis whose clinical and neuroradiological findings have been documented. Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis. Genotype determination showed point mutation in exon 2 of the beta-galactosidase gene, which is common among the patients reported in Japan. T2-weighted MRI demonstrated bilateral symmetrical hypointensity in the putamen and globus pallidus. Single photon emission computed tomography using 99mTc-HMPAO showed bilateral hyperperfusion in the basal ganglia which decreased gradually during 1 year of observation. Twenty-two patients with type 3 GM1 gangliosidosis reported in the literature whose onset was at under 15 years of age were reviewed.
一名11岁的日本女孩通过临床症状和酶测定被诊断为患有3型GM1神经节苷脂沉积症。她是有临床和神经放射学检查结果记录的3型GM1神经节苷脂沉积症患者中最年幼的。自婴儿早期起出现的笨拙以及自儿童早期起出现的肌张力障碍，进展缓慢，无智力衰退和畸形，这使我们做出了3型GM1神经节苷脂沉积症的诊断。基因分型显示β-半乳糖苷酶基因外显子2存在点突变，这在日本报道的患者中很常见。T2加权磁共振成像显示壳核和苍白球双侧对称低信号。使用99mTc-HMPAO的单光子发射计算机断层扫描显示基底神经节双侧血流灌注增加，在1年的观察期内逐渐减少。对文献报道的22例发病年龄在15岁以下的3型GM1神经节苷脂沉积症患者进行了回顾。
