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作者报导了一例原因不明的痉挛患者的研究结果。患者是一例1976年出生的女孩,其母在怀孕期曾因癫痫接受过治疗。该患儿在3岁时有癫痫表现,后来发作次数增加。6岁时入院治疗,检查发现病人是畸形小头;除深部腱反射轻度增强外,无其他临床指征。实验室常规检查亦证明患者无其他异常。但气相层析分析发现,患儿尿、血清和脑脊液(CSF)中的尿嘧啶和胸腺嘧啶大量增加,并经气相层析—质谱分析加以鉴定。用高效液相层析(HP-LC)对这两种嘧啶硷定量并与正常人相比,两种硷基在患者尿中增加1000倍,在血清和CSF中大
The authors report the findings of a case of spasticity of unknown origin. The patient is an example of a girl born in 1976 whose mother had been treated for epilepsy during pregnancy. The child had epilepsy at 3 years of age, and later increased seizures. At 6 years of age hospitalized, examination revealed that the patient was malformation head; in addition to mild enhancement of deep tendon reflex, no other clinical indications. Laboratory routine examination also proved that patients with no other abnormalities. However, gas chromatography analysis found a significant increase in urinary, serum and cerebrospinal fluid (CSF) uracil and thymine in children and was identified by gas chromatography-mass spectrometry. The two pyrimidine bases were quantified by high performance liquid chromatography (HP-LC) and compared to normal subjects, both bases were increased 1000-fold in the patient’s urine and were large in both serum and CSF