Acquaviva Fabio, Bruno Giorgia, Palladino Federica, Rubino Alfonso, Russo Carmela, Pandolfi Maria, Covelli Eugenio Maria, Evangelista Eloisa, De Falco Luigia, Tirozzi Alfonsina, De Brasi Daniele, Varone Antonio
Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, 80122 Naples, Italy.
Pediatric Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.
Int J Mol Sci. 2025 Aug 22;26(17):8175. doi: 10.3390/ijms26178175.
Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a pediatric case of recurrent facial palsy secondary to hyperostosis of the skull and narrowing of the neural foramina related to a SOST-related sclerosing bone dysplasia. To our knowledge, this is the first Italian case that is also related to a novel loss-of-function variant in the gene. We highlight the clinical relevance of a proper early diagnosis and the need for correct monitoring of the clinical evolution, considering the natural history of the disease, to prevent/reduce severe neurological complications.
复发性面神经麻痹在儿科人群中是一种罕见的病症，大多为特发性，或与常见的合并症相关，或极少见于综合征性疾病。然而，有些病例难以解释，需要更精确的诊断方法。在这项研究中，我们描述了一例儿科复发性面神经麻痹病例，其继发于颅骨骨质增生和神经孔狭窄，与一种与SOST相关的硬化性骨发育异常有关。据我们所知，这是首例与该基因新型功能丧失变异相关的意大利病例。考虑到疾病的自然病程，我们强调了早期正确诊断的临床相关性以及对临床进展进行正确监测的必要性，以预防/减少严重的神经并发症。
