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目的探讨婴儿痉挛症(IS)患儿中不同先天性代谢异常情况,以利早期进行病因及对症治疗。方法采用气相色谱-质谱法对30例IS患儿尿标本进行氨基酸、有机酸、脂肪酸、糖、核苷酸等代谢异常筛查,并进行尿常规、肝功能、血生化、脑部影像学及脑干听、视觉诱发电位等检查。结果 30例IS患儿中,23例(76.67%)尿筛查异常,其中甲基丙二酸尿症及酮性双羧酸尿症各4例(13.33%),非酮性双羧酸尿症3例(10.00%),苯丙酮尿症、戊二酸尿症、乳酸尿症和丙酸尿症各2例(6.67%),焦谷氨酸尿症、4-羟基苯丙酮酸尿症、色氨酸尿症及乳糖和半乳糖代谢异常各1例(3.33%)。23例尿筛查异常病例均有不同程度的智力运动发育落后或倒退(100%)。其中头颅CT或MRI异常12例(52.17%),脑干诱发电位异常20例(86.96%),肝功能异常3例(13.04%),血生化异常4例(17.39%),尿常规酮体阳性(+～++)3例(13.04%)。结论先天性代谢异常是IS重要致病原因,对IS患儿应尽早进行先天性代谢异常筛查和遗传咨询,以助早期治疗及改善预后。
Objective To investigate the different congenital metabolic abnormalities in children with infantile spasms (IS) to facilitate the early etiology and symptomatic treatment. Methods The urine samples of 30 children with IS were screened for abnormalities in metabolism of amino acids, organic acids, fatty acids, sugars and nucleotides by gas chromatography-mass spectrometry (GC-MS), and urine routine, liver function, blood biochemistry, Brainstem listening, visual evoked potentials and other tests. Results Of 30 IS children, 23 (76.67%) had abnormal urinalysis, including 4 cases (13.33%) of methylmalonic aciduria and ketoacidosis, 3 cases (10.00%), 2 cases of phenylketonuria, glutaric aciduria, lactic aciduria and propionic aciduria (6.67%), pyroglutamateuria, 4-hydroxyphenylpyruvic aciduria , Tryptophanuria and lactose and galactose metabolism in 1 case (3.33%). Twenty-three cases of abnormal urine screening showed varying degrees of mental retardation or regression (100%). Among them, 12 cases (52.17%) had CT or MRI skull abnormalities, 20 cases (86.96%) had abnormal brain stem evoked potentials, 3 cases (13.04%) had liver dysfunction, 4 cases (17.39%) had abnormal blood biochemistry, (+ ~ ++) in 3 cases (13.04%). Conclusions Congenital metabolic abnormalities are an important pathogenic factor of IS. Asymptomatic metabolic abnormalities screening and genetic counseling should be conducted in children with IS to help early treatment and improve prognosis.