烯酰辅酶a水合酶短链1 (ECHS1)突变儿童的阵发性肌张力障碍

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2022-06-01 DOI:10.1055/s-0042-1758470

Akshata Huddar, P. Govindaraj, Shwetha Chiplunkar, M. Nagappa, A. Taly, B. P. Sankaran

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引用次数: 0

摘要

1例2岁男童，无并发症妊娠，父母健康，无亲属关系，足月出生，自1岁半以来每日出现3-4次肌张力障碍发作。发作包括全身性肌张力障碍，伴有发热、行走或其他轻微的运动活动，每天发生多次，持续约30 - 60分钟，无任何日变化。病人发育正常。两次发作之间的神经学检查显示脑神经、力量、张力正常

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Paroxysmal Dystonia in a Child with Enoyl-CoA Hydratase Short-Chain 1 ( ECHS1 ) Mutations

A 2-year-old boy, born at term to healthy unrelated parents after an uncomplicated pregnancy, presented with recurrent daily episodes of dystonia (3-4/day)since 1-and-half years of age. Episodes consisted of generalized dystonia precipitated by fever, walking or other minor motor activity, occurring multiple times per day, lasting for about 30 to 60minutes, without any diurnal variation. The patient had normal development. Neurological examination in between the episodes revealed normal cranial nerves, power, tone

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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.