Dacryocystocele

Dacryocystocele is a rare congenital midface anomaly caused by obstruction of both proximal and distal ends of the nasolacrimal duct. It is a benign lesion that can resolve spontaneously during intrauterine life or immediately in the perinatal period. It can also be treated successfully after birth (1). 

Dacryocystocele can be unilateral or bilateral. Unilateral cases are important in the differential diagnosis of serious facial abnormalities. Bilateral cysts may extend intranasally and obstruct the nasal passages, causing neonatal respiratory distress that requires a surgical intervention (2). Prenatal diagnosis is important, because dacryocystocele can occur in numerous syndromes and may serve as their marker (3). 

 ICD-10: Q10.4, Q10.5, Q10.6.

The reported incidence of dacryocystocele has ranged from 0.016% to 2.76% (4,5). The incidence in the United States was estimated at 1 in 3,884 live births (0.02%) over a 20-year period, whereas an incidence of 1 in 18,597 (0.005%) was observed in the United Kingdom over a 1-year period (6,7). Spontaneous resolution or subclinical presentation of congenital dacryocystoceles could be responsible for underreporting. 
Ethnic and racial predispositions have been documented (6,8). The condition is seen predominantly in Caucasians (7), females (4,7,9,10) and is more commonly unilateral (7,9,10-12).

The development of the lacrimal drainage system begins in the surface ectoderm between the maxillary and the lateral nasal processes, usually during the 6th week of pregnancy (13). Canalization of the nasolacrimal pathway begins at about 12 weeks of gestation and is completed as early as 24 weeks. However, the nasal (distal) end of the lacrimal drainage system at the level of the valve of Hasner may perforate only at birth or even later, approximately 6 weeks after birth (14).

Dacryocystocele may result from two simultaneous pathologic mechanisms. Persistence of a thin mucosal membrane between the duct and the nasal cavity, known as the valve of Hasner, allows the accumulation of fluid within the lacrimal sac.  Another valvular mechanism at the proximal end, known as the Rosenmüller valve, which normally prevents reflux from the lacrimal sac to the canaliculi, may cause distension of the lacrimal sac with complete obstruction of nasolacrimal drainage, leading to dacryocystocele formation (14-16). This may appear as a mass that causes a superonasal slanting of the palpebral fissure. Some authors also believe that congenital dacryocystoceles are caused by a cystic maldevelopment of the lacrimal sac during intrauterine lacrimal canalization (13).

Congenital dacryocystoceles are the second most common cause of neonatal nasal obstruction after choanal atresia and may require prompt treatment (1). 

Genetic factors contributing to the pathogenesis of congenital dacryocystoceles are poorly understood. Sporadic familial cases have been reported (8,17). Cases of unilateral and bilateral dacryocystoceles have been reported in sets of identical twins raising the question of a genetic basis of the disease (17,18). A genetic basis of the etiopathogenesis of this rare anomaly needs to be explored further. 

Dacryocystoceles may be associated with other abnormalities or syndromes (19). Malformation syndromes that may feature dacryocystoceles include ectrodactyly-ectodermal dysplasia clefting, Down syndrome, Canavan disease, and multicystic kidney disease. In addition, a case associated with suspected Tetralogy of Fallot and a case with comorbid preaxial polydactyly have been reported (20).

There is no increased risk of recurrence.

3- dimensional ultrasound (2DUS, 3DUS, respectively) and MRI. Congenital dacryocystocele has been diagnosed as early as the 27th gestational week (19).
On prenatal ultrasound examination, an enlarged, well-defined, hypoechoic, cystic structure is seen adjacent to the medial and inferior aspects of the fetal orbit, appearing in the later second and third trimester. The hypoechogenic mass may be seen in the axial, coronal or parasagittal plane, including the nose and medial angle of the orbits (21). 

Color Doppler ultrasonography in the superior transverse plane of the face can document the flow of amniotic fluid through the nostrils, the nasal airway, and into the nasopharynx.  Such use of color Doppler imaging might be implemented as a simple method for prenatal diagnosis of choanal atresia (22).

3DUS has markedly improved the evaluation of fetal facial anomalies. Additional information provided by 3DUS may impact the clinical management of the fetus. Data obtained by this technique may be useful for differential diagnosis, whereby clinicians may inform the parents about the diagnosis and its clinical consequences prenatally (21,23).
Real-time 3DUS multi-slice imaging is another useful tool for evaluating internal fetal abnormalities as a supplement to 2DUS. The multiplanar mode allows standardized views in the acquisition plane (A plane) by rotating the reconstructed planes (B and C-planes). Multi-slice imaging yields informative images of subtle anomalies regardless of fetal position (24). 
 

The differential diagnosis of dacryocystocele includes nasal glioma, frontonasal/nasoethmoidal encephalocele, dermoid cyst, epidermoid cyst, facial hemangioma, lymphangioma, and rhabdomyosarcoma (25). 

An accurate prenatal diagnosis of dacryocystocele is crucial because of possible comorbidities such as anterior encephalocele, teratoma, hemangioma, glioma, or rhabdomyosarcoma (19). Three-dimensional rendered images can support the subjective evaluation of the face (21). 

The typical cystic appearance medial to the orbit without internal vascularization on color and power Doppler intervention as in the presented case should be distinguished from the other periorbital masses on axial plane (21-23). Multiplanar views are also important during prenatal evaluation and can facilitate the differential diagnosis of a frontal cephalocele (25). 

Hemangiomas are cutaneous in origin and typically located in the head or neck.  They can be septated or solid and have greater echogenicity.  Hemangiomas are differentiated from dacryocystoceles by their more intense Doppler patterns (26-28). 

Dermoid cysts feature a complex hyperechogenic appearance, with areas of calcification usually present.  Most are situated superolateral to the globe or in an internal angular location (above the medial canthus). Atypical locations include the inferior conjunctival fornix (28). 

Anterior cephalocele is a mid-line lesion accompanied by a calvarial defect and usually by hydrocephalus. Other orbital masses include neurofibromatosis, lymphangioma, and rhabdomyosarcoma, but these are solid tumors and extremely rare (29). Nasolacrimal mucocele is also very rare and difficult to diagnose prenatally (30). 

The differential diagnosis between dacryocystocele and other more aggressive periorbital masses is often not possible only with ultrasound. The sonographic appearance of dacryocystocele allows the differential diagnosis of this pathology, revealing its location, size, and time of appearance, echogenicity, and Doppler flow characteristics. MRI is helpful in ruling out a potential intracranial connection, especially when the lesion is unilateral (31). 

In neonates, congenital obstruction of the nasolacrimal drainage system can appear either as dacryocystocele or dacryostenosis, depending on the presence or absence of nasolacrimal sac distension, respectively. Potential complications include persistent epiphora, dacryocystitis, conjunctivitis, facial cellulitis, and upper airway obstruction. Nevertheless, most cases resolve without sequelae, either spontaneously or after gentle digital massage.

Spontaneous resolution occurs before birth in 50% of cases. We suggest conservative treatment initially. If spontaneous resolution does not occur within 24 h, nasolacrimal probing is the treatment of choice. Intranasal probing and marsupialization may be indicated for persistent lesions or for complications (8,32-34). Surgical intervention may benefit those who are suffering from dacryocystitis, facial cellulitis, respiratory distress, recurrences, and failure of digital massage or probing (35).

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