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该文报告4例儿童谷胱甘肽过氧化物酶(GP)缺乏并发难治性癫痫、复发性感染、抗癫痫治疗无效。4例患儿均于出生后头6个月发生癫痫,尽管临床表现各异,但脑电图均示多灶性异常波,CT 和 MR示进展性脑萎缩。化验结果示血清铜、乳酸盐、丙酮酸盐及脑脊液均正常。尿内低聚糖、粘多糖和唾液酸亦正常,血浆及尿氯基酸、溶酶体活性未见异常。4例患者的染色体组型亦无异常。2例患者的细胞内GP 浓度降低(12.7和20.02IU/g,正常为31.6～39.4),血浆 GP 升高(55.09和50.44IU/dL,正常值32.4～47.6)。2例患者双亲的红细胞 GP 活性降低。另外2例患者的红细胞 GP 活性降低(13.50与8.25IU/g),血浆酶活悱降低(18.99和24.82IU/dL)。全血硒浓度降低(5.1和3.4μg/dL,),仅1例父亲的红细胞 GP 活性降低。但4俐患者双亲的谷胱甘肽还原酶(GR)活性均降低。4例患者的细胞内GR 值均在正常值上限或大子正常值(6.5～9.89IU/g,正常为5.4～7.4),故停用抗癫痫药物,予以补充硒剂后,4例患者的临床表现均改善。4例患者的肌肉活检均示肌束间纤维组织和肌纤膜聚集的脂质物
This article reports 4 cases of children with a lack of glutathione peroxidase (GP) complicated by refractory epilepsy, recurrent infections, anti-epileptic treatment ineffective. All 4 patients had epilepsy in the first 6 months after birth. Although the clinical manifestations were different, EEG showed multifocal abnormal waves, while CT and MR showed progressive brain atrophy. Laboratory tests showed serum copper, lactate, pyruvate and cerebrospinal fluid were normal. Urinary oligosaccharides, mucopolysaccharide and sialic acid are normal, plasma and urine chloride acid, lysosome activity was normal. 4 cases of patients with no abnormal chromosome type. Two patients had decreased intracellular GP concentrations (12.7 and 20.02 IU / g, normal ranged from 31.6 to 39.4) and plasma GP increased (55.09 and 50.44 IU / dL, respectively, normalized from 32.4 to 47.6). The GP activity of erythrocytes in both parents decreased. In the other two patients, erythrocyte GP activity was decreased (13.50 vs. 8.25 IU / g) and plasma enzyme activity was decreased (18.99 and 24.82 IU / dL). Selenium concentrations in whole blood decreased (5.1 and 3.4 μg / dL, respectively), while only 1 patient’s GP decreased. However, both parents of glutathione glutathione reductase (GR) activity were reduced. 4 patients with intracellular GR value in the upper limit of normal or large normal children (6.5 ~ 9.89IU / g, normal 5.4 ~ 7.4), so the withdrawal of antiepileptic drugs, to be supplemented selenium, 4 patients Clinical performance improved. The muscle biopsies of the 4 patients showed lipid aggregates between the muscle fibers and the myofibers