Jin Jessica, Rothämel Paula, Büchel Johanna, Kammer Birgit, Brunet Theresa, Pattathu Joseph, Flemmer Andreas W, Nussbaum Claudia, Schroepf Sebastian
Division of Neonatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Clinic and Outpatient Clinic for Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.
Front Pediatr. 2024 Jan 4;11:1329404. doi: 10.3389/fped.2023.1329404. eCollection 2023.
Persistent pulmonary hypertension of the newborn (PPHN) is a life-threatening condition characterized by hypoxemia due to elevated pulmonary vascular resistance. PPHN commonly arises secondary to various underlying conditions, including infection, meconium aspiration, and respiratory distress syndrome. Management includes pulmonary vasodilators, mechanical ventilation, oxygen supplementation, vasopressors, and volume replacement. Stüve-Wiedemann syndrome (SWS), a rare genetic disorder characterized by bone dysplasia, respiratory distress, hyperthermia, and swallowing difficulties, may present with pulmonary hypertension, indicating a poor prognosis.
A term female neonate presented with secondary respiratory failure and severe PPHN of unknown etiology on the second day of life, necessitating intubation. Clinical findings included facial dysmorphia, camptodactyly, skeletal anomalies, and generalized muscular hypotonia. High-frequency oscillation ventilation and surfactant administration yielded marginal improvement. On the third day of life, a severe pulmonary hypertensive crisis necessitated inhaled and systemic pulmonary vasodilators along with volume and catecholamine therapy. Whole exome sequencing revealed a homozygous mutation in the leukemia inhibitory factor receptor () gene, consistent with Stüve-Wiedemann syndrome.
DISCUSSION/CONCLUSION: The case underscores the importance of considering and prompting evaluation of rare genetic causes in the differential diagnosis of PPHN, especially when other abnormalities are present and conventional therapies prove inadequate. Therapeutic strategies must account for the different pathophysiology of primary PPHN including vascular remodeling, as seen in SWS, which may not respond to pulmonary vasodilators typically employed in secondary PPHN due to vasoconstriction. In this case, the patient responded well to treatment for primary PPHN, but the use of high-frequency oscillation ventilation and surfactant was not helpful.
新生儿持续性肺动脉高压（PPHN）是一种危及生命的疾病，其特征是由于肺血管阻力升高导致低氧血症。PPHN通常继发于各种潜在疾病，包括感染、胎粪吸入和呼吸窘迫综合征。治疗包括使用肺血管扩张剂、机械通气、吸氧、血管加压药和液体补充。施特韦-维德曼综合征（SWS）是一种罕见的遗传性疾病，其特征为骨发育异常、呼吸窘迫、体温过高和吞咽困难，可能会出现肺动脉高压，提示预后不良。
一名足月儿女婴在出生第二天出现继发性呼吸衰竭和病因不明的严重PPHN，需要插管。临床检查发现面部畸形、屈曲指、骨骼异常和全身肌张力减退。高频振荡通气和使用表面活性剂后症状稍有改善。出生第三天，严重的肺动脉高压危象需要吸入和全身性肺血管扩张剂以及液体和儿茶酚胺治疗。全外显子组测序显示白血病抑制因子受体（）基因存在纯合突变，与施特韦-维德曼综合征相符。
讨论/结论：该病例强调了在PPHN的鉴别诊断中考虑并及时评估罕见遗传病因的重要性，尤其是当存在其他异常且传统治疗方法无效时。治疗策略必须考虑原发性PPHN的不同病理生理学，包括血管重塑，如在SWS中所见，由于血管收缩，其可能对继发性PPHN中常用的肺血管扩张剂无反应。在本病例中，患者对原发性PPHN的治疗反应良好，但高频振荡通气和表面活性剂的使用并无帮助。
