Nguyen Pham Tu Anh, Lavisha Punjabi, Lynn Koh Huiting, Jitendrakumar Vora Shrenik
Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.
Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.
Int J Surg Case Rep. 2023 Aug;109:108518. doi: 10.1016/j.ijscr.2023.108518. Epub 2023 Jul 20.
Congenital teratomas arising from the oropharynx, also known as epignathus, are exceedingly rare tumours occurring in 1:35,000-200,000 live births. Although histologically benign, these tumours are often difficult to diagnose antenatally and can cause life-threatening airway obstruction in the newborn.
We present a case of a full-term female infant presenting at birth with respiratory distress and stridor. Clinical examination and magnetic resonance imaging showed a large multilobulated nasopharyngeal mass causing severe airway compromise. The infant underwent excision biopsy with partial debulking of the tumour surrounding the airway, and was successfully extubated thereafter to room air. Histopathological examination confirmed the diagnosis of mature teratoma.
The pathophysiology of epignathus is thought to be aberrant proliferation of pluripotent cells in the notochord during early embryogenesis. Antenatally, elevated maternal alpha-fetoprotein or polyhydramnios may be clue to diagnosis. The mainstay of treatment is airway clearance with surgical resection, which can be curative or at least minimizes the risk of malignancy.
This case highlights the importance of early recognition and multidisciplinary management of the neonatal airway, in order to improve outcome.
起源于口咽的先天性畸胎瘤，也称为咽颌部畸胎瘤，是极为罕见的肿瘤，发生率为1:35,000至200,000活产儿。尽管组织学上为良性，但这些肿瘤在产前往往难以诊断，且可导致新生儿危及生命的气道阻塞。
我们报告一例足月女婴，出生时出现呼吸窘迫和喘鸣。临床检查和磁共振成像显示一个巨大的多叶状鼻咽部肿块，导致严重的气道受压。该婴儿接受了切除活检，并对气道周围的肿瘤进行了部分减瘤，此后成功拔管并吸入室内空气。组织病理学检查确诊为成熟畸胎瘤。
咽颌部畸胎瘤的病理生理学被认为是早期胚胎发育过程中脊索中多能细胞的异常增殖。在产前，母体甲胎蛋白升高或羊水过多可能是诊断线索。治疗的主要方法是通过手术切除清除气道，这可以治愈疾病或至少将恶性风险降至最低。
本病例强调了早期识别和新生儿气道多学科管理的重要性，以改善预后。
