Imaging Findings in Agenesis of the Lacrimal and Salivary Glands
Tran, Jeffrey; Allen, Richard C.Read More
Agenesis of the lacrimal and salivary glands is an autosomal dominant disorder associated with mutations in the fibroblast growth factor 10 (FGF10) gene. Agenesis of lacrimal and salivary glands has variable expressivity, and the clinical findings include both lacrimal outflow abnormalities and aplasia or hypoplasia of the parotid, submandibular, sublingual, and lacrimal glands. From the absence of lacrimal glands, patients may present with ocular irritation and recurrent eye infections. Patients with nasolacrimal duct obstruction may also note increased ocular irritation and discharge, which is optimally treated with dacryocystectomy. The authors’ patient is a 30-year-old male who presented with a chief complaint of bilateral “blocked tear ducts.” Palpation of the lacrimal sac demonstrated dacryocystocele with reflux bilaterally. A coronal view (Fig. 1A) and axial view (Fig. 1B) of the patient’s computed tomography maxillofacial demonstrates bilateral dacryocystoceles without intranasal cysts (blue arrows) and absence of both lacrimal glands (yellow arrows). Absence of the paLrotid glands (red arrows) and teeth (green arrows) can be seen in Figure 2A. The parotid gland is normally seen as a hypoattenuating region surrounding the muscle of mastication, and the absence of the parotid gland can be appreciated by the homogenous appearance of the soft tissues surrounding the mandible. The absence of the salivary glands can lead to dental caries, dental erosions, and loss of dentition, which can be further seen in the 3-dimensional rendering of the computed tomography scan (Fig. 2B).