Shen W C, Tsai F J, Tsai C H
Department of Radiology, China Medical College Hospital, Taichung, Taiwan.
J Formos Med Assoc. 1998 Apr;97(4):296-9.
An 18-month-old girl was diagnosed as having GM1 gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepatosplenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme beta-galactosidase. Magnetic resonance T1-weighted images showed persistent hyperintensity in the bilateral thalami, brainstem, and deep cerebellum at 14 and 18 months of age, indicating arrest of the myelination process in these areas, and that the arrest had occurred at the newborn stage. There was no myelination in the basal ganglia and diffuse leukomalacia developed in the cerebral hemispheres. Only supportive treatment was given; the patient died at 2 years of age. Myelination arrest at the newborn stage associated with progressive leukomalacia is a possible characteristic of GM1 gangliosidosis.
一名18个月大的女孩，根据肌肉僵硬、发育迟缓、肝脾肿大和脊柱后凸侧弯的临床症状以及实验室检查显示溶酶体降解酶β-半乳糖苷酶缺乏，被诊断为患有GM1神经节苷脂贮积症。磁共振T1加权图像显示，在14个月和18个月大时，双侧丘脑、脑干和小脑深部持续出现高强度信号，表明这些区域的髓鞘形成过程停滞，且这种停滞发生在新生儿期。基底神经节无髓鞘形成，大脑半球出现弥漫性脑白质软化。仅给予了支持性治疗；该患者于2岁时死亡。新生儿期髓鞘形成停滞并伴有进行性脑白质软化是GM1神经节苷脂贮积症的一个可能特征。
