Pai syndrome associated with cerebral arteriovenous malformation

Pai syndrome is a rare entity, initially described as a frontonasal dysplasia that associates the presence of skin polyp on the nasal bridge, midline cleft of the upper lip and lipoma of the corpus callosum, due to the wide phenotypic variability. Recently the diagnostic criteria were updated to include the presence of a congenital midfrontal or nasal skin mass or polyp in the alveolar process associated with mid-upper lip fissure and/or pericallosal lipoma. We present the case of a 10-month-old infant with Pai syndrome associated with cerebral arteriovenous malformation, in our review such association was not found in the literature reviewed. The patient received multidisciplinary care that included surgeries by the specialties of otorhinolaryngology and plastic surgery with a favorable outcome.