Arattu Thodika Fahad, Williams Emma E, Dassios Theodore, Adu John, Nanjundappa Mahesh, Harris Christopher, Greenough Anne
Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Science and Medicine, King's College London, London, UK.
Neonatal Intensive Care Centre, King's College Hospital NHS Foundation Trust, London, UK.
Case Rep Perinat Med. 2022 Jun 27;11(1):20210092. doi: 10.1515/crpm-2021-0092. eCollection 2022 Jan.
To describe the importance of comprehensive assessment to determine the underlying diagnosis and the role of physiological pulmonary measurements in the management of congenital bilateral eventration of the diaphragm.
A female infant born at 34 weeks gestation required intubation and ventilation at birth. Chest radiographical imaging revealed bilateral density to the bases of both lung fields with raised hemi-diaphragms. Ultrasound imaging showed focal diaphragmatic eventration with bulging of the dome of the liver into the right and left hemithoraces. Assessment of the electrical activity of the diaphragm during a spontaneous breathing trial demonstrated a mean amplitude consistent with that of ventilated infants of the same gestational age with intact diaphragms. Hence she was extubated which was successful. Chest radiographic thoracic area measured post extubation was 1,654 mm, equivalent to that of a term infant with severe congenital diaphragmatic hernia. As the electrical activity of the diaphragm was normal this suggests replacement of the diaphragmatic muscle tissue with fibrous bands was likely to be only partial, and hence why extubation was successful. She had other abnormalities presenting in the neonatal period including dermal melancytosis, central hypotonia, hyperinsulinism and poor feeding. The infant underwent extensive investigation which revealed a KMT2D gene mutation associated with Kabuki syndrome.
Physiological pulmonary measurements may add clinical management in bilateratal diaphragmatic eventration.
描述全面评估对于确定潜在诊断的重要性以及生理性肺测量在先天性双侧膈膨升管理中的作用。
一名孕34周出生的女婴出生时需要插管和通气。胸部X线成像显示双侧肺野底部密度增高，半膈肌抬高。超声成像显示局灶性膈膨升，肝脏穹窿部膨入左右胸腔。在自主呼吸试验期间对膈肌电活动的评估显示，其平均振幅与相同胎龄且膈肌完整的通气婴儿一致。因此，她成功拔管。拔管后测量的胸部X线胸廓面积为1654平方毫米，与患有严重先天性膈疝的足月儿相当。由于膈肌电活动正常，这表明膈肌肌肉组织可能仅部分被纤维带替代，这就是拔管成功的原因。她在新生儿期还出现了其他异常，包括皮肤黑素细胞增多症、中枢性肌张力低下、高胰岛素血症和喂养困难。该婴儿接受了广泛检查，结果显示存在与歌舞伎综合征相关的KMT2D基因突变。
生理性肺测量可能有助于双侧膈膨升的临床管理。
