Pai syndrome associated with vomer agenesis: case report with review of literature

Abstract Background Frontonasal Dysplasia (FND) is an uncommon developmental defect affecting the midface, leading to abnormal facial development. Pai Syndrome is a part of the frontonasal dysplasia spectrum, is typically marked by median cleft lip, cutaneous polyps, and midline central nervous system lipomas. Pai Syndrome is also associated with various intracranial abnormalities. This is the first documented case of Pai Syndrome in a female patient with concurrent vomer agenesis. Case presentation A 17-year-old female with persistent nasal obstruction and a history of median cleft lip and palate surgery was found to have deviated nasal septum and nasal mass. CT revealed polypoidal thickening in the left maxillary sinus, an incomplete nasal septum with a defect, and lipoma in the nasal septum. There was also pericallosal lipoma with bracket calcification and partial agenesis of the corpus callosum. Ophthalmologic evaluation showed hypertelorism. The diagnosis was consistent with frontonasal dysplasia, potentially Pai Syndrome or a variant. Conclusion The presence of midline nasal lipomas or masses should raise concerns about Pai Syndrome and other frontonasal dysplasia. Additional imaging is necessary to detect associated congenital abnormalities, which aids in accurately diagnosing Pai Syndrome and planning surgical treatments.