Extensive Pneumatization of the Ethmoid Sinus in a Case of Velocardiofacial Syndrome

A 20-year-old woman presented with recurrent left frontal headaches and left facial pain. She had previously received extensive medical therapy for chronic and recurrent left rhinosinusitis. Her medical history was significant for a diagnosis of velocardiofacial syndrome, which had been noted shortly after her birth. At the age of 2 weeks, she had undergone surgery for transposition of the great vessels. Following this, she underwent successful palatal surgery.

When the patient presented to us, endoscopic nasal evaluation revealed the presence of a structure lateral to the left middle turbinate that appeared to be an enlarged uncinate process (figure, A). Computed tomography (CT) of the sinuses revealed left frontoeth-moid sinusitis and marked aeration of the left ethmoid labyrinth with extension of ethmoid cells inferior and medial to the ethmoid infundibulum (figure, B). Extensive aeration of the sphenoid sinuses was also observed, along with a loss of bony anatomy of the maxillary sinus and palate posteriorly.

Figure.

A: The pneumatized structure (arrow) is seen lateral to the left middle turbinate (S = septum; MT = middle turbinate). B: CT shows the marked aeration of the left ethmoid labyrinth. C: Entry into the left ethmoid sinus reveals extensive pneumatization. D: The pneumatized uncinate process (arrow) is seen. E: Image shows the widely patent drainage pathway from the left maxillary sinus.

The patient underwent left functional endoscopic sinus surgery. At surgery, extensive pneumatization of the left ethmoid sinus was encountered inferiorly (figure, C). What appeared to be a pneumatized uncinate process was also found (figure, D) together with a widely patent drainage pathway from the maxillary sinus (figure, E). Six months postoperatively, the patient reported no further headaches or facial pain.

Velocardiofacial syndrome (Shprintzen syndrome, DiGeorge syndrome) is a genetic, multiple-anomaly disease associated with a deletion of DNA from chromosome 22. ¹ Its prevalence is estimated at 1 in 2,000 in the United States. While as many as 200 different abnormalities have been associated with the syndrome, most patients exhibit only a few. The most common general problems associated with velocardiofacial syndrome are congenital heart disease, immune disorders, endocrine problems, and mild developmental, learning, or behavioral problems.

Otolaryngologic problems associated with velocardiofacial syndrome include speech and language deficiencies. In particular, palatal deformities can cause dysfunction as a result of velopharyngeal insufficiency and associated middle ear and eustachian tube problems. ² Craniofacial findings include a structurally asymmetric face.