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首页> 外文期刊>Journal of inherited metabolic disease >Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder
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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

机译：脑多巴胺-5-羟色胺水泡运输疾病表现为严重的婴儿低渗性帕金森病

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Two male siblings from a consanguineous union presented in early infancy with marked truncal hypotonia, a general paucity of movement, extrapyramidal signs and cognitive delay. By mid-childhood they had made little developmental progress and remained severely hypotonic and bradykinetic. They developed epilepsy and had problems with autonomic dysfunction and oculogyric crises. They had a number of orthopaedic problems secondary to their hypotonia. Cerebrospinal fluid (CSF) neurotransmitters were initially normal, apart from mildly elevated 5-hydroxyindolacetic acid, and the children did not respond favourably to a trial of levodopa-carbidopa. The youngest died from respiratory complications at 10 years of age. Repeat CSF neurotransmitters in the older sibling at eight years of age showed slightly low homovanillic acid and 5-hydroxyindoleacetic acid levels. Whole-exome sequencing revealed a novel mutation homozygous in both children in the monoamine transporter gene SLC18A2 (p.Pro237His), resulting in brain dopamine-serotonin vesicular transport disease. This is the second family to be described with a mutation in this gene. Treatment with the dopamine agonist pramipexole in the surviving child resulted in mild improvements in alertness, communication, and eye movements. This case supports the identification of the causal mutation in the original case, expands the clinical phenotype of brain dopamine-serotonin vesicular transport disease and confirms that pramipexole treatment may lead to symptomatic improvement in affected individuals.
机译：来自婴儿近亲的两个男性同胞出现在婴儿早期，伴有明显的截短性肌张力减退，活动能力低下，锥体束外征象和认知迟缓。到儿童中期，他们的发展进展很小，并且严重低渗和运动迟缓。他们患上了癫痫病，并患有自主神经功能障碍和眼科疾病。他们患有继发于肌张力低下的许多骨科疾病。除5-羟吲哚乙酸轻度升高外，脑脊液（CSF）神经递质最初是正常的，并且儿童对左旋多巴-卡比多巴的试验没有良好的反应。最小的孩子死于10岁的呼吸系统并发症。八岁大的同胞中重复的CSF神经递质显示高香草酸和5-羟吲哚乙酸水平略低。全外显子测序揭示了两个孩子中单胺转运蛋白基因SLC18A2（p.Pro237His）的纯合突变，导致脑多巴胺-血清素水泡转运疾病。这是该基因突变的第二个家族。用多巴胺激动剂普拉克索对尚存的孩子进行治疗，可使机敏性，沟通能力和眼球运动得到轻度改善。该病例支持在原始病例中识别因果突变，扩大脑多巴胺-5-羟色胺水泡运输疾病的临床表型，并证实普拉克索治疗可能导致受影响个体的症状改善。

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