Diagnostic criteria in Pai syndrome: results of a case series and a literature review

Abstract

Pai syndrome was originally described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present with the full triad, and most exhibit a wide spectrum of phenotypic variability. The aim of this study was to phenotypically delineate Pai syndrome and to propose new criteria to facilitate a clinical diagnosis in the future. The study cohort consisted of seven case patients and an additional 60 cases diagnosed with Pai syndrome identified in a literature review. Only 23 of 67 patients presented the full triad as historically described by Pai et al. (1987). A congenital facial midline skin mass was always encountered, particularly affecting the nasal structures (60/67). A midline facial cleft was reported in 45 of 67 patients and a pericallosal lipoma in 42 of 67 patients. The proposed definition of Pai syndrome is the association of (1) a congenital nasal and/or mediofrontal skin mass and/or a mid-anterior alveolar process polyp as a mandatory criterion, and at least one of the following criteria: (2) midline cleft lip and/or midline alveolar cleft, and/or (3) a pericallosal lipoma or interhemispheric lipoma in the case of corpus callosum dysgenesis.

Pai Syndrome: A Case Report and a Literature Review

“…1 Although the etiology of this syndrome remains unknown, it has been hypothesized that its mode of inheritance is autosomal dominant. [2][3][4] Differential diagnoses include Loeys-Dietz syndrome, Oculocerebrocutaneous syndrome, frontonasal dysplasia and Goldenhar syndrome, along with chromosomal anomalies. 5 PS presents at birth as a phenotype ranging from mild facial dysmorphism to severe anomalies resembling frontonasal dysplasia.…”

“…Lipomas of skin in the frontal region may have cartilaginous content. [2][3][4] Polyps are either situated in the nasal septum or extend into the nostril in addition to the septum. These anomalies may cause respiratory insufficiency, a greater risk of respiratory infection, speech disorders or feeding difficulties.…”

“…This congenital disease was first described in 1987, and to the best of our knowledge, 60 cases have been reported in literature to date, although the etiology remains unknown. 1,2 Diagnosis of PS is established from the presence of one or more of the diagnostic criteria in addition to a nasal lipoma. Magnetic resonance imaging (MRI) is helpful in the identification of pericallosal lipomas and abnormal structures of the third ventricle.…”

Pai syndrome: a review

“…It was first described by Pai et al as “an unusual combination of three rare developmental anomalies: complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system” [ 2 ]. It has a high phenotypical variability, and most of the cases described in literature do not meet the full triad of criteria originally defined by Pai, which is a relatively restrictive definition [ 3 ]. About sixty cases of Pai syndrome have been described in literature up to date.…”

Anatomic landmark approach to reconstruction of asymmetric midline cleft lip due to Pai syndrome

“…Pai syndrome is characterized by midline cleft lip with the addition of corpus callosum lipomas and facial polyps, that can make the nasolabial region asymmetric [2,7,8]. Although this presentation has been relatively recently reported, methods to accommodate for the asymmetry have not been described and treatment outcomes are lacking.…”