Neonatal Intensive Care Unit and Neonatology Unit, Azienda Ospedaliero-Universitaria Policlinico, "Rodolico-San Marco," San Marco Hospital, Catania, Italy.
Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero-Universitaria Policlinico, "Rodolico-San Marco," San Marco Hospital, Catania, Italy.
J Child Neurol. 2024 Oct;39(11-12):415-424. doi: 10.1177/08830738241273425. Epub 2024 Sep 2.
Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were in 9 of 14 (64.28%), in 2 of 14 (14.28%), in 1 of 14 (7.14%), and in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.
发作性过度惊跳症是一种以不同类型刺激引发的惊跳反射过度为特征的神经障碍。发作性过度惊跳症的定义为三联征，即新生儿期出现的过度肌紧张、过度惊跳反射以及惊跳后出现的全身僵硬。尽管发作性过度惊跳症并不常见，但它可能导致严重后果，如跌倒、脑损伤或婴儿猝死综合征。本研究旨在确定具有明确遗传诊断的新生儿发作性过度惊跳症病例，并在发病时建立基因型-表型相关性。从 1993 年至 2024 年，选择文献，并应用 PRISMA 声明，包括 28 天内的新生儿。因此，我们从文献中检索到 14 例经基因证实的新生儿发作性过度惊跳症病例。14 例患者中有 8 例（57.14%）在出生后第 1 天出现临床表现。临床发现包括肌肉僵硬（100%）、惊跳反射（66.66%）、呼吸暂停/发绀（41.66%）、鼻敲击试验阳性（33.33%）、抽搐（33.33%）、震颤（25%）和阵挛性眨眼（25%）。涉及的基因有 9 例（64.28%）、2 例（14.28%）、1 例（7.14%）和 2 例（14.28%）。患者表现为杂合子（66.66%）或纯合子（33.33%）状态。在 14 例患者中有 7 例（50%），该病症发生在其他家族成员中。未达到基因型-表型相关性。及时诊断对于改善发作性过度惊跳症的自然病程至关重要，可避免/减少婴儿猝死综合征、脑损伤和严重跌倒等可能的严重并发症。与癫痫的早期鉴别可降低治疗成本并提高患者的生活质量。
