喂养困难伴运动发育落后8个月、眼球震颤4个月

发布时间：2018-03-19 08:58

  本文选题：芳香族L-氨基酸脱羧酶　切入点：肌张力低下　出处：《中国当代儿科杂志》2017年01期 　论文类型：期刊论文

【摘要】：芳香族L-氨基酸脱羧酶(AADC)缺乏症是一种罕见的常染色体隐性遗传病,为AADC缺乏导致的先天性神经递质生物合成的代谢紊乱。主要表现为肌张力低下、动眼危象、自主神经功能紊乱、发育落后等,目前尚无成熟的治疗方法。该文报道1例表现为发育落后、肌张力低下、动眼危象的男性患儿,代谢性疾病基因筛查发现多巴胺脱羧酶(DDC)基因外显子区域存在新的复合杂合突变:c.1063dup A(p.I355fs)、c.250AC(p.S84R),血滤纸片3-O-甲基多巴明显升高,因此确诊为AADC缺乏症。给予多巴胺受体激动剂盐酸普拉克索、儿茶酚-O-甲基转移酶抑制剂恩他卡朋联合维生素B6治疗,患儿肌张力低下、眼睑下垂、动眼危象得到轻度改善。临床医师应提高对AADC缺乏症这一罕见病的识别能力,对肌张力低下、运动落后、动眼危象的患儿应考虑到此病,以期予以早期诊断及治疗,并为有需要的患儿父母提供优生遗传咨询及产前诊断。
[Abstract]:Aromatic L-amino acid decarboxylase deficiency is a rare autosomal recessive disorder, which is a metabolic disorder of congenital neurotransmitter biosynthesis caused by AADC deficiency. It is characterized by hypotonia and oculomotor crisis. There is no mature treatment for autonomic nervous dysfunction and developmental retardation. This paper reports a case of male children with developmental retardation, hypotonia and oculomotor crisis. Metabolic disease gene screening revealed that there was a new complex heterozygous mutation in the exon region of dopamine decarboxylase (DDC) gene, and that there was a new complex heterozygosity mutation in the exon region of dopamine decarboxylase (DDC) gene. A new complex heterozygous mutation was found in the exon region of dopamine decarboxylase gene. A new hybrid mutation was found in the exon region of dopamine decarboxylase. Therefore, AADC deficiency was diagnosed. The children were treated with dopamine receptor agonist Praquisol Hydrochloride, catechol-O-methyltransferase inhibitor Entakaben and Vitamin B6. The children suffered from hypotonia and blepharoptosis. The oculomotor crisis was slightly improved. The clinicians should improve their ability to recognize the rare disease of AADC deficiency, and should take this disease into account for the children with low muscular tension, backward movement and oculomotor crisis, with a view to early diagnosis and treatment. It also provides eugenic genetic counseling and prenatal diagnosis for children in need.
【作者单位】： 湖北省妇女儿童医院儿童内分泌遗传代谢科;

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