芳香l -氨基酸脱羧酶缺乏症的印度儿童的临床特征和结果:一种原发性脑脊液神经递质障碍,类似于运动障碍脑瘫。

IF 0.4 Q4 PEDIATRICS
Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-27 DOI:10.1055/s-0040-1714690
Vykuntaraju K Gowda, Hemadri Vegda, Balamurugan B Nagarajan, Sanjay K Shivappa
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引用次数: 2

摘要

芳香l -氨基酸脱羧酶(AADC)缺乏是一种神经递质合成障碍。它表现为精神运动迟缓、肌张力障碍、眼部危象和自主神经特征。关于这种疾病的文献很少。因此,我们报道这个系列的目的是研究印度AADC缺乏症儿童的概况和结果。在本回顾性研究中,分析了2014年3月至2020年3月在某三级医院儿科神经内科遗传确诊的AADC缺乏症的所有病例记录。数据以预先设计的形式提取并分析。在7个病例中,有5个是男性。出现症状的中位年龄为4个月,但诊断的中位年龄为12个月。所有患者均有发育迟缓、眼功能危象、肌张力障碍、出汗增多、间歇性发热、进食和睡眠障碍、易怒、发育不全、轴向张力低下伴运动障碍性四肢瘫,脑磁共振成像(MRI)和脑电图(EEG)正常。5-磷酸吡哆醛、三己苯醚和普拉克索治疗6例,另外给予溴隐亭治疗。1例患者加用selegiline治疗。改善1例,部分改善5例,过期1例。总之,任何有运动障碍四肢瘫、眼神经危象、自主神经障碍如出汗增多、间歇性发热和睡眠障碍的儿童,在神经影像学正常的情况下,都应怀疑存在AADC缺乏。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis, dystonia, increased sweating, intermittent fever, feeding and sleep disturbance, irritability, failure to thrive, axial hypotonia with dyskinetic quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with pyridoxal 5-phosphate, trihexyphenidyl and pramipexole and six cases, in addition, were given bromocriptine. One case was additionally treated with selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent fever, and sleep disturbance with normal neuroimaging.

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来源期刊
自引率
0.00%
发文量
32
期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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