Escapita Alexa C, Thomas Julienne G, Johnson Tara L
Department of Neurobiology and Developmental Sciences, Graduate School, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Transl Pediatr. 2024 Jul 31;13(7):1258-1265. doi: 10.21037/tp-24-57. Epub 2024 Jul 29.
Congenital heart disease (CHD) is the most common birth defect, affecting 1% of children who are born in the United States each year. Children with hypoplastic left heart syndrome, a type of critical CHD, are at high risk for neurodevelopmental disabilities, which are conditions that can affect motor, language, and cognitive development. In children with critical CHD, the severity and prevalence of their motor delays is most pronounced in infancy.
We present a case of a former late preterm male with hypoplastic left heart syndrome and history of hypoxic ischemic encephalopathy, who was diagnosed with spastic diplegic cerebral palsy in the setting of periventricular leukomalacia. Like many children with critical CHD, this child had gross motor delays and tone abnormalities in infancy. However, unlike many children with CHD, he continued to have neurologic differences that prompted additional evaluation through a Cardiac Neurodevelopmental Program. He was diagnosed with spastic diplegic cerebral palsy based upon clinical history and physical examination. Ancillary testing showed periventricular leukomalacia on brain magnetic resonance imaging (MRI); this finding was consistent with his clinical diagnosis.
This is an interesting case report of spastic diplegic cerebral palsy in a late preterm infant with critical CHD. When making a diagnosis of cerebral palsy, it is important to consider the etiology of the motor impairment. Selective vulnerability may have played a factor in this child's condition. The most vulnerable part of the neonatal brain is the periventricular white matter; cerebral hypoxia can lead to periventricular leukomalacia. Children with CHD have brain dysmaturity beginning in-utero. Thus, it is possible that this child's brain dysmaturity may have increased his susceptibility to periventricular leukomalacia. Because most children with CHD have gross motor delays in infancy, it may be challenging to make a definitive diagnosis of cerebral palsy in an infant with critical CHD. Children with cerebral palsy have early motor delays that persist throughout life. It is the identification of persistent motor impairments through repeat evaluations that enabled this child's cerebral palsy diagnosis. This illustrates the importance of developmental surveillance in children with critical CHD.
先天性心脏病（CHD）是最常见的出生缺陷，每年影响美国1%的新生儿。患有左心发育不全综合征（一种严重的CHD）的儿童有患神经发育障碍的高风险，这些疾病会影响运动、语言和认知发展。在患有严重CHD的儿童中，运动发育迟缓的严重程度和患病率在婴儿期最为明显。
我们报告一例 former late preterm 男性患儿，患有左心发育不全综合征且有缺氧缺血性脑病病史，在脑室周围白质软化的情况下被诊断为痉挛性双瘫型脑瘫。和许多患有严重CHD的儿童一样，该患儿在婴儿期有粗大运动发育迟缓及肌张力异常。然而，与许多CHD患儿不同的是，他持续存在神经方面的差异，促使通过心脏神经发育项目进行进一步评估。根据临床病史和体格检查，他被诊断为痉挛性双瘫型脑瘫。辅助检查显示脑磁共振成像（MRI）有脑室周围白质软化；这一发现与他的临床诊断相符。
这是一例关于患有严重CHD的晚期早产儿痉挛性双瘫型脑瘫的有趣病例报告。在诊断脑瘫时，考虑运动障碍的病因很重要。选择性易损性可能在该患儿病情中起了作用。新生儿脑最易受损的部分是脑室周围白质；脑缺氧可导致脑室周围白质软化。患有CHD的儿童在子宫内就开始出现脑发育不成熟。因此，该患儿脑发育不成熟可能增加了他对脑室周围白质软化的易感性。由于大多数患有CHD的儿童在婴儿期有粗大运动发育迟缓，在患有严重CHD的婴儿中明确诊断脑瘫可能具有挑战性。患有脑瘫的儿童早期运动发育迟缓会持续一生。正是通过重复评估识别出持续的运动障碍才得以诊断该患儿的脑瘫。这说明了对患有严重CHD的儿童进行发育监测的重要性。
