儿童与kmt2b相关的急性肌张力障碍:分子诊断的临床指标

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2023-03-11 DOI:10.1055/s-0043-1769476

Ankur Singh, S. Sucheta, Abhishek Abhinay, R. Prasad

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引用次数: 0

摘要

肌张力障碍是儿童神经系统疾病的常见锥体外系表现。病因可能包括感染性、自身免疫性、药物性或遗传性。遗传原因在起源上是罕见的，但可以掩盖常见的原因。最近，kmt2b相关的肌张力障碍已被确定为儿童肌张力障碍的常见遗传原因。我们报告了一个3.5岁的病例，随访18个月，她被诊断为kmt2b相关的肌张力障碍，并使用抗肌张力障碍药物治疗到可接受的水平，使她可以轻松地进行日常工作。在这里，我们强调某些临床指标的疾病和需要特殊的基因检测诊断这类病例。我们还将先前报道的三例印度病例制成表格，并将其参数与我们的参数进行比较。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A Child with KMT2B-Related Acute-Onset Dystonia: Clinical Pointers to Molecular Diagnosis

Abstract Dystonia is common extrapyramidal presentation of neurological problems in childhood. The causes could range from infectious, autoimmune, drug-induced, or genetic in origin. Genetic causes are rare in origin but could masquerade the common causes. Recently, KMT2B-related dystonia has been identified as a common genetic cause of dystonia in childhood. We present a case of a 3.5-year-old with 18 months of follow-up, who was diagnosed with KMT2B-related dystonia and managed with antidystonia drugs to an acceptable level where she could perform her day-to-day work with ease. Here, we highlight certain clinical pointers of the disease and the need of special genetic test in diagnosing such cases. We also tabulated the three previously reported Indian cases and compared their parameter with ours.

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来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.