Congenital heterotopic gastrointestinal duplication cyst of the face: a rare case report

Abstract

Gastrointestinal duplication (GDC) cysts have various synonyms; choristoma, enterocystoma, and duplication cyst. They are infrequent congenital benign lesions diagnosed mainly in children in the first decade of life, comprising approximately less than 5% of the pediatric population with a predilection for the male sex. It is exceedingly rare in the oral cavity but it is possible, particularly on the tongue, floor of the mouth, and pharynx. From 1895 until 1994, 30 cases of this lesion in the oral cavity were reported. Nowadays, none of the authors reported a GDC in the facial region. We report an exceptional case of heterotopic gastrointestinal duplication cysts (HGDC) in the facial region of a 13 -years -old male teenager who was referred to our medical department for an evaluation of a painless progressive facial asymmetry. In the first instance, the ultrasound facial soft tissue was made with a 6.5 MHz convex transducer, reporting a big anechoic image with regular borders to a 60 x 26 x 56 mm diameter with a 46cc approximate volume. Following this, a non-contrast magnetic resonance image was executed with an open Philips PanoramaⓇ machine performed at 3T, reporting a hyperintense image in T2-weighted (repetition time msec/echo time msec: 5,500/112) sagittal sequence and FLAIR-weighted (5,714/80) axial sequence; and an isointense image in T1-weighted (24/80) coronal sequence to 54 x 30 x 51 mm diameter compatible with space occupant lesion with interior walls. A complete tumor resection was achieved under balanced general anesthesia, and the specimen was sent for histological examination. Microscopic examination showed a cystic cavity lined mostly by mucous secretory gastrointestinal epithelium and other areas by stratified squamous epithelium. The cystic wall was composed of fibrous connective tissue and contains abundant gastric cells. Its deepest portion exhibits a smooth muscle layer. In summary, HGDC is an unusual congenital head and neck lesion, but it should be considered in the differential diagnosis of neonates and children. The diagnosis of gastrointestinal tract duplications may be suggested by imaging studies; however, the correct diagnosis is defined by histopathologic analysis. Due to the risk of destruction potential and malignant transformation, HGDC should be treated surgically by complete excision.