Bondarenko E S, Malyshev Iu I
Zh Nevropatol Psikhiatr Im S S Korsakova. 1977;77(10):1458-63.
The report contains a description of the clinical development of hepato-cerebral dystrophy in 11 children and of deformans muscular dystrophy in 7 children. The authors indicate to expressed visceral disorders in patients with hepato-cerebral dystrophy and to positive results in the treatment by thiol preparations. The paper also contains an observation with an inheritance of deformans muscular dystonia of a dominant type. Due to a clinical polymorphism of hepato-cerebral dystrophy and deformans muscular dystrophy in children a possibility of a wide phenocopy of this pathology should be taken into consideration.
该报告包含了11例儿童肝脑变性型脑白质营养不良和7例儿童变形性肌营养不良的临床发展描述。作者指出肝脑变性型脑白质营养不良患者存在明显的内脏紊乱，以及硫醇制剂治疗取得了积极效果。该论文还包含了一例显性遗传的变形性肌张力障碍的观察病例。由于儿童肝脑变性型脑白质营养不良和变形性肌营养不良存在临床多态性，应考虑到这种病理存在广泛拟表型的可能性。
