Pai Syndrome: A Case Report and a Literature Review

Abstract

Pai syndrome (PS) is a rare regional developmental defect of the face, mainly characterized by the variable association of midline cleft of the upper lip (MCL), facial cutaneous lipomas, midanterior alveolar process and nasal polyps and intracranial (pericallosal) lipomas. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. Very few cases of Pai syndrome diagnosed prenatally have been described. Pai syndrome is usually diagnosed at birth. Differential diagnoses include Loeys-Dietz syndrome, Oculocerebrocutaneous syndrome, frontonasal dysplasia and Goldenhar syndrome, along with chromosomal anomalies. In this case report 4-year-old female patient with nasal and pericallosal lipoma is presented and the clinical and radiological features of Pai syndrome were discussed with the literature review.