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Bilateral congenital lacrimal fistulae: a case report.

Abstract

A congenital lacrimal fistula is a rare developmental anomaly, usually unilateral. While it is often asymptomatic, some patients present with epiphora or discharge. We report the case of a 4-year-old boy with bilateral lacrimal fistulae. No other systemic, nasal, or ocular anomalies were found. In the absence of significant symptoms, we decided on a course of observation. In this article, we discuss the embryologic basis of congenital lacrimal fistulae, as well as the typical presentation and possible treatment modalities. The presence of a lacrimal fistula is an indication to search for a variety of underlying systemic and ocular anomalies.

Introduction

A congenital lacrimal fistula is a rare developmental anomaly that is caused by an interruption in the embryogenesis of the nasolacrimal system. While it is often asymptomatic, some patients present with epiphora or discharge that requires surgical intervention. Rasor described the first reported case of congenital lacrimal fistula in 1675. (1) To the best of our knowledge, no case of congenital lacrimal fistula has been reported in the otolaryngology literature.

We report the case of a 4-year-old boy with bilateral lacrimal fistulae. We also discuss the embryologic basis of this anomaly, as well as its typical presentation and possible treatment modalities. The presence of a lacrimal fistula is an indication to search for a variety of underlying systemic and ocular anomalies.

Case report

A 4-year-old boy was brought to our otolaryngology clinic a few weeks after his parents had made an incidental discovery of bilateral pits located inferior and medial to the medial canthi (figure 1). There was no history of drainage or infection. The pits were 1 mm in size, and they overlaid the lacrimal sac on both sides of the nose. A small amount of dried sebaceous material was found in the pits. No discharge was elicited from the puncta when pressure was applied to the lacrimal sacs.

Computed tomography (CT) confirmed the suspicion of bilateral congenital lacrimal fistulae (figure 2). The patient was referred to the ophthalmology department to rule out associated ocular abnormalities, and no evidence of a complete lacrimal-cutaneous fistula was found on transillumination. Findings on the rest of the ocular examination were normal, including patency of the nasolacrimal system. No other systemic, nasal, or ocular anomalies were found, and no family member had a lacrimal fistula.

Since the lacrimal fistulae were asymptomatic, the decision was made to manage the patient conservatively by close observation.

Discussion

The lacrimal system comprises the lacrimal glands for tear production and the lacrimal ducts for draining tears away from the eyes. The nasolacrimal apparatus arises embryologically from a cord of surface ectoderm that invaginates between the maxillary and frontonasal processes, giving rise to the canaliculi proximally and the lacrimal sac and nasolacrimal duct distally. (2) Canalization of the buried ectodermal cord occurs throughout the length of the nasolacrimal apparatus. An incomplete separation of the cord from the surface epithelium or an abnormal out-budding of the buried ectodermal cord can result in supernumerary puncta and canaliculi. (3) Histologic examinations have shown that congenital lacrimal fistulae are lined with stratified squamous epithelium that is similar to that of normal canaliculi. (4)

Congenital lacrimal system anomalies other than nasolacrimal duct obstruction are uncommon. Cases of congenital lacrimal fistula are rare; when they do occur, they are usually unilateral. Most of these fistulae originate in the common canaliculus; in other cases, they may arise from the lacrimal sac or nasolacrimal duct. They can be seen externally as small orifices or pits characteristically located inferior and/or medial to the medial canthi. In some cases, the fistula tract ends blindly in the subcutaneous tissue near the lacrimal sac. (5)

[FIGURE 1 OMITTED]

The incidence of congenital lacrimal fistula is estimated to be 1 in 2,000 births. (3,6) In occasional cases, congenital lacrimal fistulae are inherited in an autosomal-dominant fashion. (3,6) Cohorts with an autosomal-recessive inheritance pattern have also been reported in the literature. (4) These anomalies are often asymptomatic and nonprogressive, and they appear as a small orifice or pit that may go undetected. In some cases, symptoms such as epiphora and drainage of a mucoid discharge may necessitate surgical excision. While most fistulae are unilateral, familial cases are associated with a higher incidence of bilaterality.

[FIGURE 2 OMITTED]

Congenital lacrimal fistula can be associated with other abnormalities, such as preauricular fistula, hypospadias, and VACTERL association (vertebral abnormalities, anal atresia, cardiac malformations, tracheoesophageal fistula, renal abnormalities, and limb abnormalities). Congenital lacrimal fistula has also been associated with thalassemia and Down syndrome. (3,5,7)

Associated ocular pathologies--including dacryocystitis, agenesis of the lacrimal punctum and canaliculus, lacrimal tract stenosis, and infections of the lower eyelid--have been reported, as have hypertelorism and strabismus. (4) The presence of a lacrimal fistula is an indication to search for a variety of underlying systemic and ocular anomalies.

A wide range of treatment modalities for symptomatic congenital lacrimal fistula has been discussed in the literature. These options range from nasolacrimal duct probing and cauterization of the external ostium to surgical excision of the fistula, either alone or in combination with dacryocystorhinostomy.

Patients with a symptomatic lacrimal fistula (e.g., symptoms such as epiphora and chronic discharge from the fistula) are potential candidates for surgical treatment. The patency of the nasolacrimal apparatus needs to be assessed prior to embarking on any surgical procedure for treatment. For patients who are asymptomatic (as our patient was) or minimally symptomatic, observation is a reasonable approach. (2,4)

References

(1.) Birchansky LD, Nerad JA, Kersten RC, Kulwin DR. Management of congenital lacrimal sac fistula. Arch Ophthalmol 1990;108(3): 388-90.

(2.) Maden A, Yilmaz S, Ture M. Hereditary lacrimal fistula. Orbit 2008; 27 (1):69-72.

(3.) Jones LT, Wobig JL. Surgery of the Eyelids and Lacrimal System. Birmingham, Ala.: Aesculapius Publishing; 1978:167-73.

(4.) Welham RA, Bergin DJ. Congenital lacrimal fistulas. Arch Ophthalmol 1985;103(4):545-8.

(5.) Harrison AR, Dailey RA, Wobig JL. Bilateral congenital lacrimal anlage ducts (lacrimal fistula) in a patient with the VACTERL association. Ophthal Plast Reconstr Surg 2002;18(2):149-50.

(6.) Mann I. The lids, lacrimal apparatus and orbital contents. In: Mann I. Developmental Abnormalities of the Eye. 2nd ed. Philadelphia: Lippincott; 1957:389-90.

(7.) Sullivan TJ, Clarke MP, Brazel S, et al. Congenital lacrimal fistula associated with Downs syndrome. Am J Ophthalmol 1992; 113(2): 215-16.

Lei Zhuang, MD; Christin L. Sylvester, DO; Jeffrey P. Simons, MD

From the Department of Head and Neck Surgery, Southern California Permanente Medical Group, Woodland Hills, Calif. (Dr. Zhuang); and the Department of Ophthalmology (Dr. Sylvester) and the Department of Otolaryngology (Dr. Simons), Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine. The case described in this article was seen at the Children's Hospital of Pittsburgh of UPMC.

Corresponding author: Jeffrey P. Simons, MD; Department of Otolaryngology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine; 4401 Penn Ave., Faculty Pavilion 7th Floor, Pittsburgh, PA 15224. Email: jeffrey.simons@chp.edu

Previous presentation: The information in this article was originally presented at the Combined Sections Meeting of the Triological Society; Feb. 4-7, 2010; Orlando, Fla.
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Title Annotation:ORIGINAL ARTICLE
Author:Zhuang, Lei; Sylvester, Christin L.; Simons, Jeffrey P.
Publication:Ear, Nose and Throat Journal
Article Type:Case study
Date:May 1, 2012
Words:1183
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