Paediatric foregut duplication cysts of the head and neck: a retrospective case series, systematic review and meta-analysis

Background: Foregut duplication cysts (FDCs) are rare congenital abnormalities that can be found at any site along the upper gastrointestinal tract. There are a few reports in the literature of FDCs presenting in the head and neck region. This study presents five cases of FDCs managed at the Royal Children’s Hospital (RCH) in Melbourne, Australia, in the last 10 years, as well as a systematic literature review on the management of FDC. This study aims to elucidate the appropriate investigation and management of this rare entity in the head and neck and explores the challenges of differential diagnosis and histopathological confirmation. Methods: A retrospective search of FDCs between January 2014 to December 2024 was performed. A systematic review of FDCs in the head and neck region was conducted in PubMed, MEDLINE and EMBASE in accordance with PRISMA guidelines. A meta-analysis was run on combined data. Results: Five cases of FDCs were identified through the pathology database. The mean age at diagnosis was 8.2 months. Two were female and three were male. Two cases were found in the floor of mouth (FOM), two in the base of tongue (BOT) and one in the uvula. The differential diagnoses considered were ranula, sialocoele and lymphatic malformation based on radiological features. Eventual management of all cases was complete surgical excision. Follow-up of a minimum of two years revealed no long-term complications or recurrences. A systematic review identified 43 additional paediatric cases. Most were diagnosed prenatally (n=15, 34.8%) or neonatally (n=14, 32.5%). Common sites were FOM (n=17, 39.5%) and tongue (n=15, 34.8%). Excision was performed in 28/43 cases (65.1%), with a pooled recurrence rate of 15% [95% confidence interval (CI): 2–34%, P=0.92]. Marsupialisation had a 72% recurrence rate (95% CI: 0–100%, P=0.29). Sclerotherapy, aspiration, and potassium titanyl phosphate (KTP) laser (n=5 total) all had 100% recurrence. Airway compromise was most associated with pyriform sinus and pharyngeal wall lesions (n=4), with pooled proportions of 100%. In contrast, airway involvement was lower in the BOT (37%, n=2/6, 95% CI: 0–100%, P=0.09), FOM (13%, n=2/17, 95% CI: 0–39%, P=0.80), and tongue (2%, n=1/15, 95% CI: 0–13%, P=0.99). Conclusions: Histologically, FDCs can be lined with enteric, neurenteric or respiratory (bronchogenic) cells. Reports of head and neck FDCs are rare, with only 43 cases reported. Our case series has been added to the literature. FDC is an important differential diagnosis for congenital cystic head and neck masses that the ear, nose, and throat (ENT) surgeon should be cognisant of.