Arioka Makoto, Nakamura Shinji, Nishioka Katsufumi, Inoue Kota, Nakao Yasuhiro, Miyai Yumi, Morita Hirosuke, Koyano Kosuke, Takenouchi Toshiki, Yasuda Saneyuki, Chiba Yoichi, Iwase Takashi, Ueno Masaki, Kusaka Takashi
Maternal and Perinatal Center, Kagawa University Hospital, Kagawa, Japan.
Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Eur J Med Genet. 2024 Dec;72:104978. doi: 10.1016/j.ejmg.2024.104978. Epub 2024 Oct 17.
Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a de novo frameshift variant in ASXL1. Autopsy revealed that the lung was at the saccular stage, equivalent to 28-34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in ASXL1.
博林-奥皮茨综合征（BOS）是一种罕见疾病，具有特征性的面部外观和肢体姿势。本报告描述了一例BOS合并新生儿持续性肺动脉高压（PPHN）及异常肺泡形成的病例，该病例经尸检确诊。一名女婴在孕37周零2天时剖宫产出生，发现有葡萄酒色斑、眼球突出、腭异常、下颌后缩以及BOS特征性姿势。该患者患有严重的PPHN，需要吸入一氧化氮。基因检测显示ASXL1基因存在一个新发的移码变异。尸检显示肺处于囊状期，相当于孕28 - 34周。这是首份报告，呈现了由ASXL1基因变异导致的BOS患者中，可能与PPHN相关的肺不成熟的病理证据。
