Skullerud K, Marstein S, Schrader H, Brundelet P J, Jellum E
Acta Neuropathol. 1980;52(3):235-8. doi: 10.1007/BF00705812.
The clinical and pathologic features of a male patient with generalized glutathione deficiency and pyroglutamic aciduria are presented. The patient died at the age of 28 years. He was mentally retarded from infancy and developed progressive tremor, retardation of movement, and ataxia as from the age of 16. Neuropathologic examination of the brain disclosed a selective atrophy of the granule cell layer of the cerebellum and focal lesions in the visual cortex and the thalamus. The type and distribution of the lesions resembled those seen after mercury intoxication. However, in our patient the damage was probably caused by the lack of protection of glutathione against oxidative damage in the brain. Possible treatment of this rare metabolic disorder might include external supply of an antioxidant, e.g., a thiol capable of penetrating the blood brain barrier.
本文报告了一名患有全身性谷胱甘肽缺乏症和焦谷氨酸尿症男性患者的临床及病理特征。该患者28岁时死亡。他自幼智力发育迟缓，16岁起出现进行性震颤、运动迟缓及共济失调。脑部神经病理学检查发现小脑颗粒细胞层选择性萎缩，视觉皮层和丘脑有局灶性病变。这些病变的类型和分布与汞中毒后所见相似。然而，在我们的患者中，损伤可能是由于脑内缺乏谷胱甘肽对氧化损伤的保护作用所致。这种罕见代谢紊乱的可能治疗方法可能包括外部供应抗氧化剂，例如能够穿透血脑屏障的硫醇。
