Nasolacrimal Duct Obstruction in a Patient With Sotos Syndrome

A 3-year-old male with Sotos syndrome presented with bilateral epiphora, which was more prominent on the right side and suspected to be due to congenital nasolacrimal duct obstruction. Two years prior, the patient had nasolacrimal duct probing. The left side was successfully intubated with a silicone stent, but symptoms persisted. The right side could not be fully probed, leaving both sides symptomatic. Preoperative CT imaging revealed significant nasolacrimal canal asymmetry. Coronal views (Fig. 1) showed a normal left canal extending to the inferior meatus, while the right was severely stenotic or atretic. Axial views at the middle turbinate level (Fig. 2) confirmed an absent right nasolacrimal canal contrasting with the normal left canal. Despite the normal appearance of the left nasolacrimal canal on CT, the patient continued to experience bilateral epiphora, suggesting possible functional obstruction or other factors not visible on imaging. A right dacryocystorhinostomy was performed, and the child was asymptomatic at both the 2-week and 3-month postoperative exams.FIG. 1.FIG. 2.Sotos syndrome, or cerebral gigantism, is a rare genetic disorder caused by mutations in the NSD1 gene on chromosome 5. It manifests in early childhood with somatic overgrowth, macrosomia at birth, and accelerated growth in height, weight, and macrocephaly. Associated features include mild cognitive deficits, developmental delays, and speech abnormalities. Phenotypic traits often include macrocephaly with frontal bossing, enlarged hands and feet, and downward-slanting palpebral fissures. The atresia of the right nasolacrimal duct in this case is presumed to result from aberrant bone development characteristic of Sotos syndrome.