不要忘记测量头部:脑积水可以在表型上模仿发育协调障碍。

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY
Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman
{"title":"不要忘记测量头部:脑积水可以在表型上模仿发育协调障碍。","authors":"Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman","doi":"10.1177/08830738241302252","DOIUrl":null,"url":null,"abstract":"<p><p>Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241302252"},"PeriodicalIF":2.0000,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.\",\"authors\":\"Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman\",\"doi\":\"10.1177/08830738241302252\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.</p>\",\"PeriodicalId\":15319,\"journal\":{\"name\":\"Journal of Child Neurology\",\"volume\":\" \",\"pages\":\"8830738241302252\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2025-01-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Child Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/08830738241302252\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Child Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/08830738241302252","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

发育性协调障碍(DCD)是一种神经发育障碍,表现为年轻时运动技能发展不良和协调能力受损。要诊断DCD,必须首先排除可解释表型的神经系统疾病,包括脑积水等结构性脑异常。然而,这些神经系统疾病可能在表型上模仿DCD,这可能妨碍它们的区分。在这篇文章中,我们报告了一个病人,他最初的诊断DCD被撤销后,获得性脑积水的鉴定。该病例的一个重要线索是继发性大头畸形(大约6年的时间从+0.00到+2.25标准差)。该病例表明,在表型似乎符合DCD标准的儿童中,在诊断DCD之前,排除潜在的、可治疗的病因是很重要的。由于小头畸形(包括脑积水)中很少出现类似DCD的结构性脑异常,因此进行纵向头围测量可以及时识别这些神经系统疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.

Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of Child Neurology
Journal of Child Neurology 医学-临床神经学
CiteScore
4.20
自引率
5.30%
发文量
111
审稿时长
3-6 weeks
期刊介绍: The Journal of Child Neurology (JCN) embraces peer-reviewed clinical and investigative studies from a wide-variety of neuroscience disciplines. Focusing on the needs of neurologic patients from birth to age 18 years, JCN covers topics ranging from assessment of new and changing therapies and procedures; diagnosis, evaluation, and management of neurologic, neuropsychiatric, and neurodevelopmental disorders; and pathophysiology of central nervous system diseases.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信