Alvarez F, Landrieu P, Laget P, Lemonnier F, Odièvre M, Alagille D
Hepatology. 1983 May-Jun;3(3):410-4. doi: 10.1002/hep.1840030321.
Thirteen children, aged 10 months to 20 years, presenting with chronic cholestasis from the first month of life and with low serum levels of vitamins A and/or E, have been investigated for neurological and ophthalmological symptoms. Clinical findings consisted of 4 types: peripheral neuropathy; cerebellar dysfunction; abnormalities of eye movement, and retinal degenerative changes. The results of electrophysiological and morphological studies of muscle and nerves were consistent with neurono-axonal degeneration. Electrical abnormalities of the retina, especially a decrease of the b wave of electroretinogram, appear to be the first sign of the syndrome, allowing early detection. Evidence for vitamin deficiency (E or E+A) suggests substitutive parenteral treatment in such patients.
13名年龄在10个月至20岁之间的儿童，自出生第一个月起就出现慢性胆汁淤积，血清维生素A和/或E水平较低，针对其神经和眼科症状进行了调查。临床发现包括4种类型：周围神经病变；小脑功能障碍；眼球运动异常和视网膜退行性改变。肌肉和神经的电生理及形态学研究结果与神经轴突变性一致。视网膜的电异常，尤其是视网膜电图b波降低，似乎是该综合征的首个迹象，有助于早期发现。维生素缺乏（维生素E或维生素E+A）的证据表明对此类患者应进行替代性肠外治疗。
