Bilateral congenital lacrimal fistula in down syndrome

Abstract

Congenital lacrimal fistulae are rare in Down syndrome and bilateral presentation is very unusual. It can be associated with nasolacrimal duct obstruction. We report a 3-year-old female with Down syndrome who presented with watering and discharge from both eyes and bilateral fistulous openings present inferonasal to the medial canthus. Upon examination, the lacrimal sac regurgitation test was positive on both sides. Our case report documents a distinctive case of bilateral congenital lacrimal fistulae in association with Down syndrome. It was managed successfully by primary fistulectomy and nasolacrimal duct probing.

Unilateral Congenital Double Lacrimal Sac Fistula

“…They are usually unilateral [2, 3,5,12] but familial cases are associated with higher incidence of bilaterally [4,9]. There does not appear to be a sex or race predilection [2, 6,8,12]. In most of the cases they are asymptomatic [3,6,11] however in some cases it may present with epiphora or discharge [2, 3,9] or mucoid secretion may be expressed by placing pressure on the sac, …”

“…Systemic associations with lacrimal fistula are so rare it requires genetic testing. Associated systemic disorders including CHARGE syndrome (coloboma, heart anomalies, choanal atresia, retardation of growth and development, genital and ear anomalies), Waardenburg-Klein syndrome, ectrodactylyectodermal-dysplasia-clefting syndrome [4], VACTERL syndrome (vertebral anomalies, anal atresia, cardiac malformations, tracheaesophageal fistula, renal and limb anomalies), preauricular fistulae, hypospadias, thalassemia and Down syndrome [3,4,6], uterus didelphys, renal agenesis ectopic pelvic kidney [2] have been reported.…”

“…The treatment of choice for a symptomatic fistula is surgery [7,9,11], these options includes complete excision of the fistulous tract, excision with intubation [1, 5,6,11] or dacryocystorhinostomy [1, 4,8,10]. In the case of lacrimal fistula without symptoms the observation is the best choice [3,4,8].…”

“…The fistulae can originate from common canaliculus, lacrimal sac or nasolacrimal duct of skin [4][5][6][7]. In 1675, the first description of congenital lacrimal sac was reported by Rasor [7][8][9].…”

Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature

“…CLFs have been systemically described with ectrodactyly-ectodermal dysplasia-clefting syndrome [ 10 ], hypospadias [ 11 ], Down syndrome [ 12 – 15 ], uterus didelphys [ 16 ], and VACTERL (vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal and radial anomalies, and limb defects) [ 17 ] in some previous reports [ 1 , 18 ]. There are two cases that were reported to be associated with renal agenesis in the literature.…”