ABSTRACT
@#Pai syndrome is a rare syndrome of unknown cause, comprising a particular variety of congenital developmental malformation with variable phenotypical presentations. It was first reported by Pai et al., in 1987 when it was described in a male new-born as an unusual combination of three rare anomalies, i.e., complete median cleft lip, cutaneous polyps, and developmental midline lipomas of the central nervous system. 1 After that, over sixty similar cases have been reported, although their phenotypic presentations were not very similar, ranging from mild-facial dysmorphism to severe frontonasal dysplasia (FND). The perceived impression about the underlying aetiology goes towards a multifactorial origin. No chromosomal abnormalities have been described in patients with PS on karyotype. Diagnosis of the syndrome is based on clinical signs and associated pathology, the common clinical component being midline facial skin masses. Minimum diagnostic criteria as suggested by Castori et al. 2 and Lederer et al. 3 , one or more hamartomatous nasal polyps plus median cleft lip (with or without cleft alveolus), and/or alveolar process congenital polyp, and/or pericallosal lipoma. Pericallosal lipoma is a common finding (85%) in this syndrome which is frequently associated with various degrees of intracerebral malformations such as agenesis or dysgenesis of corpus callosum. 3 Most of the cases of PS have been diagnosed postnatally after birth. Typically, the condition is still not found to have any negative impact on psychoneurological development. In a recent report of an 8-year-long follow-up case, Imai et al., observed some attention-deficit disorder, but its definite relationship with the syndrome is yet to be confirmed. 4