Unmasking Pai syndrome: Emphasis on neuroimaging findings

Pai syndrome is a rare syndromic variant of frontonasal dysplasia with combination of median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system. This case report aims to describe the imaging findings in a patient with midline facial deformity and to evaluate the existing literature on Pai syndrome to understand its defining characteristics better. A 25-year-old female presented to the Plastic and Maxillofacial Surgery Outpatient Department with a congenital midline facial deformity. On examination, a midline cleft and a nasal polyp were observed. There were no signs of limb deformities and no history of seizures or intellectual disability. Computed tomography and Magnetic resonance imaging revealed corpus callosum lipoma with partial agenesis, elucidating the full spectrum of the syndrome. To detect potential associated anomalies, comprehensive brain imaging is advised for patients with midline facial clefts or skin masses. Additionally, genetic counselling and testing are essential to investigate underlying genetic causes. Long-term monitoring of both physical and neuropsychological development, supported by multidisciplinary care, is recommended to address the complex challenges posed by this condition effectively.