Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G
Pediatrics. 1984 Mar;73(3):309-12.
Two siblings with classic transferase deficiency galactosemia that was detected at birth have been treated with lactose restriction since the neonatal period. Both patients developed a unique and progressive neurologic syndrome of mental retardation, tremor, and ataxia. Careful review of the family history and medical records, the absence of metabolic disturbances other than those related to galactosemia, and the aggregate physical findings and neurodiagnostic studies ruled out other neurologic disorders in these siblings. It is therefore proposed that these patients represent a subgroup of transferase-deficient galactosemic patients, who develop characteristic neurologic sequelae with conventional dietary management. The existence of this subgroup should be considered in evaluations of therapeutic responses in cohorts of patients with galactosemia. Further, galactosemia should be included in the differential diagnosis of tremor and ataxia in the setting of mental retardation.
两名患有经典转移酶缺乏型半乳糖血症的兄弟姐妹在出生时被检测出患病，自新生儿期起就接受了乳糖限制治疗。两名患者均出现了一种独特的、进行性的神经综合征，表现为智力发育迟缓、震颤和共济失调。仔细回顾家族史和病历、排除与半乳糖血症无关的代谢紊乱情况，以及综合体格检查结果和神经诊断研究，排除了这些兄弟姐妹患有其他神经系统疾病的可能性。因此，有人提出这些患者代表了转移酶缺乏型半乳糖血症患者的一个亚组，他们在传统饮食管理下会出现特征性的神经后遗症。在评估半乳糖血症患者队列的治疗反应时，应考虑这个亚组的存在。此外，在智力发育迟缓的情况下，半乳糖血症应纳入震颤和共济失调的鉴别诊断中。
