Congenital nasolacrimal duct cyst/dacryocystocele: An argument for a genetic basis

Abstract

Embryogenesis of a congenital nasolacrimal duct (NLD) cyst is attributed to the failure of the Hasner membrane of the NLD system to cannulate. Prenatal diagnosis of congenital NLD cysts supports the argument for a developmental error, with a postnatal prevalence of 6%. The role of a genetic basis for this malformation has never been ascribed. We present a set of monozygotic twins with bilateral congenital NLD cysts as an argument for a genetic basis of this entity. A case report and literature review were performed. We present two cases of bilateral congenital NLD cysts occurring in a set of monozygotic twins. Patients were delivered at 37 weeks via cesarean section. The pregnancy was complicated by preterm labor at 33 weeks requiring administration of terbutaline and betamethasone. At presentation, twin A had bilateral eye discharge, erythema, and swelling medial to the medial canthi as well as nasal obstruction. Computed tomography (CT) showed classic bilateral cystic masses in the inferior meatus. The diagnosis of bilateral infected congenital dacryocystoceles was made. Twin B initially presented with only bilateral eye discharge and CT showed a dilated NLD system. Twin B subsequently developed early signs of bilateral dacryocystoceles the following day. Both patients underwent lacrimal probing and endoscopic marsupialization of the dacryocystoceles. Biopsies were consistent with dacryocystocele. Dacryocystocele is a common presentation of unresolved neonatal NLD obstruction. This case report in a set of identical twins is an argument for a genetic basis for the formation of this lesion.

Keywords: Congenital; Hasner; cyst; dacryocystocele; dacryocystorhinostomy; genetic; nasolacrimal.

Figure 1.

Coronal computed tomography (A) of twin A and (B) of twin B showing bilateral cystic masses in the inferior meatus and a dilated nasolacrimal duct system.

Figure 2.

Nasal endoscopy showing a cystic mass in the (A) left inferior and the (B) right inferior meatus of twin A. Nasal endoscopy showing a cystic mass in the (C) left inferior and the (D) right inferior meatus of twin B.