幼儿发育落后 间断抽搐8个月  

Psychomotor retardation and intermitent convulsions for 8 months in an infant

作　　者：丁圆[1] 李溪远[1] 刘玉鹏[1] 李东晓[1] 宋金青[1] 李梦秋 秦亚萍 吴桐菲[3] 杨艳玲[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]北京福佑龙惠遗传病专科门诊部,北京100703 [3]首都医科大学右安门临床检验中心,北京100069

出　　处：《中国当代儿科杂志》2016年第1期67-71,共5页Chinese Journal of Contemporary Pediatrics

基　　金："十二.五"国家科技支撑计划课题(2012BAI09B04);北京市重点实验室基金;国家自然科学基金(2014年)

摘　　要：1病例介绍（1）病史：患儿男，1岁8个月时因发育落后，间断抽搐8个月就诊。患儿于1岁时发热40℃，出现惊厥发作，表现为双上肢抖动，耸肩，持续数秒缓解。数日后出现频繁无热惊厥，严重时每日数次发作，时间不定，睡眠中及清醒期均有发作，未服用抗癫痫药物。患儿智力运动发育落后，表情呆滞，9个月会坐，1岁8个月来院就诊时仍不会走，可扶站，自言自语叫父母，不认识家人，烦躁，易激惹。This study reports a boy with psychomotor retardation and epilepsy due to maternal phenylketonuria(PKU). The boy was admitted at the age of 20 months because of psychomotor retardation and epilepsy. He had seizures from the age of 1 year. His development quotient was 43. He presented with microcephaly, normal skin and hair color. Brain MRI scan showed mild cerebral white matter demyelination, broadening bilateral lateral ventricle and foramen magnum stricture. Chromosome karyotype, urine organic acids, blood amino acids and acylcarnitines were normal. His mother had mental retardation from her childhood. She presented with learning difficulties and yellow hair. Her premarriage health examinations were normal. She married a healthy man at age of 26 years. When she visited us at 28 years old, PKU was found by markedly elevated blood phenylalanine(916.54 μmol/L vs normal range 20-120 μmol/L). On her phenylalanine hydroxylase(PAH) gene, a homozygous mutations c.611A>G(p.Y204C) was identified, which confirmed the diagnosis of PAH-deficient PKU. Her child carries a heterozygous mutation c.611A>G with normal blood phenylalanine. Her husband had no any mutation on PAH. It is concluded that family investigation is very important for the etiological diagnosis of the children with mental retardation and epilepsy. Carefully clinical and metabolic survey should be performed for the parents with mental problems to identify parental diseases-associated child brain damage,such as maternal PKU.

关 键 词：母性苯丙酮尿症 高苯丙氨酸血症 苯丙氨酸羟化酶 智力障碍 儿童 

分 类 号：R725.9[医药卫生—儿科]