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该文报道1例因发育落后及癫癎而诊断为母性苯丙酮尿症(phenylketonuria,PKU)的患儿。患儿男,1岁8个月时就诊,发育落后,1岁出现癫癎,毛发黑,头围小,发育商为43,脑MRI扫描显示白质髓鞘化发育落后,双侧侧脑室增宽,枕骨大孔狭窄。染色体核型正常,血液氨基酸、酯酰肉碱谱及尿液有机酸正常。家族史调查发现患儿母亲自幼智力落后,学习困难,毛发色泽发黄,26岁结婚,婚前常规检查未见异常。患儿母亲于28岁来院检查,血液氨基酸分析发现血液苯丙氨酸显著增高(916.54μmol/L,正常值20~120μmol/L),苯丙氨酸羟化酶(PAH)基因c.611A>G(p.Y204C)纯合突变,为PAH缺陷导致的PKU患者。患儿为c.611A>G杂合突变携带者,血液苯丙氨酸正常。患儿父亲健康,PAH基因未检出突变。建议对于不明原因智力障碍的患儿需进行详细的家族史调查,对智力障碍的父母更需进行详细的临床及代谢分析,以发现亲代疾病导致的儿童脑损害,如母性PKU。
This article reports a case of children diagnosed as phenylketonuria (PKU) due to developmental retardation and epilepsy. Male children, 1 year old and 8 months of age, the development of backward, 1-year-old epilepsy, dark hair, head circumference is small, the developer is 43, brain MRI scan showed white matter myelinated development, bilateral lateral ventricle widened , Foramen magnum narrow. Chromosome karyotypes normal, blood amino acid, ester acylcarnitine and normal urine organic acids. Family history survey found that children with mental retardation, learning difficulties, hair color yellow, 26-year-old married, prenuptial routine examination without exception. At the age of 28, the mothers of their children were examined at the age of 28 years. Blood amino acid analysis showed that phenylalanine was significantly increased (916.54μmol / L, normal 20-120μmol / L), phenylalanine hydroxylase (PAH) gene c.611A> G (p.Y204C) A homozygous mutation in patients with PKU due to PAH deficiency. Children with c.611A> G heterozygous mutation carriers, normal blood phenylalanine. Children with healthy father, PAH gene mutation was not detected. Proposed for children with unexplained mental retardation requires a detailed family history survey, the mentally disabled parents need to conduct a detailed clinical and metabolic analysis to identify the parental disease caused by brain damage, such as maternal PKU.