Pavone P, Cho Sung Yoon, Praticò A D, Falsaperla R, Ruggieri M, Jin Dong-Kyu
University-Hospital Policlinico-Vittorio Emanuele Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Medicine (Baltimore). 2018 Sep;97(36):e12124. doi: 10.1097/MD.0000000000012124.
Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation to a severe and occasionally progressive disorder. Ptosis may show an acute onset or may manifest as a chronic disorder. Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen. A flowchart outlining the congenital and acquired type of ptosis and the clinical approach to the management and treatment of children with this anomaly is reported.
上睑下垂是一种常见但常被忽视的体征，它可能是其他病症的体征/表现，范围从轻微的单纯美容问题到严重的、偶尔进展性的疾病。上睑下垂可能急性起病，也可能表现为慢性疾病。其表现形式多样：单侧与双侧、进行性与非进行性、孤立性与伴有其他症状的复杂性，以及先天性与后天性（常与神经肌肉疾病相关）。先天性上睑下垂包括孤立型——先天性颅神经支配异常疾病，进一步分为不同亚型，如霍纳综合征（HS），以及作为各种先天性畸形综合征体征/表现的上睑下垂。在本文中，我们回顾了儿童期上睑下垂的主要病因及其各种临床表现，包括我们机构观察到的部分病例的简短报告：一个经典的孤立性家族性上睑下垂，五代中有14名成员；3名患有孤立性先天性上睑下垂的同胞，此外还患有热性惊厥发作；一名患有杜安眼球后退综合征的患者，伴有先天性皮肤和毛发异常；以及一名患有HS的女孩，有先天性处女膜闭锁病史。本文还报告了一个概述先天性和后天性上睑下垂类型以及对患有这种异常的儿童进行管理和治疗的临床方法的流程图。
