Garofalo Martinica, Helfferich Jelte, Kloet Reina W, Sival Deborah A, Heineman Kirsten R
Department of Pediatric Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
J Child Neurol. 2025 Apr;40(4):300-304. doi: 10.1177/08830738241302252. Epub 2025 Jan 9.
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 In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus.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.
发育性协调障碍（DCD）是一种神经发育疾病，其特征是在幼年时运动技能发育不良和协调性受损。要诊断DCD，必须首先排除可解释该表型的神经系统疾病，包括像脑积水这样的结构性脑异常。然而，这些神经系统疾病在表型上可能与DCD相似，这可能会妨碍对它们的区分。在本文中，我们报告了一名患者，在确诊获得性脑积水后，最初的DCD诊断被撤销。该病例中的一个重要线索是继发性巨头症（在大约6年的时间里，头围从+0.00标准差增加到+2.25标准差）。该病例表明，对于那些表型似乎符合DCD标准的儿童，在诊断DCD之前排除潜在的、可治疗的病因很重要。由于很少有模仿DCD的结构性脑异常会出现巨头症，包括脑积水，进行头围的纵向测量有助于及时识别这些神经系统疾病。
