A Case of Pai Syndrome

Abstract

A fourth patient suspected of having Pai syndrome is described. The female baby had a median cleft of the upper lip, a polypoid skin mass in the right nostril, and a conjunctival lipoma in the right eye. A median alveolar cleft was in the oral cavity. The polypoid skin mass was attached to the nasal septum, and a histologic examination disclosed mature adipose tissue with normal skin and no cartilaginous tissue. A computed tomographic scan revealed a lipoma of the corpus callosum. However, the patient was neurologically normal, and her electroencephalogram was also normal. Her growth and development have been within normal limits, and no convulsions have occurred.

Phenotypic variability of Pai syndrome: report of two patients and review of the literature

“…One of the accepted aetiological hypotheses is the persistence of primitive meninges into mature adipose tissue 20 . Patients with CNS lipomas usually present with seizures 5,18 , but those with Pai syndrome or frontonasal dysplasia associated with CNS lipomas do not; this is a constant feature in previous reports [1][2][3]6,[9][10][11][12]14,19 . The authors suggest that isolated CNS lipomas have a different embryological origin compared with those occurring in association with midfacial clefting; this is a 'positive prognostic factor' regarding seizure occurrence and overall clinical behaviour.…”

“…Although these lesions have been described in association with various forms of frontonasal dysplasia 16,13 , they seem to be peculiar to Pai syndrome [1][2][3]6,9,11,14,19 . Facial lipomas are benign and are cosmetic issues rather than functional problems.…”

“…The authors suggest that isolated CNS lipomas have a different embryological origin compared with those occurring in association with midfacial clefting; this is a 'positive prognostic factor' regarding seizure occurrence and overall clinical behaviour. Treatment for these subsets of CNS lipomas consists of observation and follow-up owing to the high risk of CNS surgery 1,3,9,11,14,19 .…”

“…Fourteen patients with this syndrome have been reported by PAI et al 11 (1987), PREECE et al 12 (1988), MORGAN and EVANS 10 (1990), RUDNIK-SCHONEBORN and ZERRES 14 (1994), MIS-HIMA et al 9 (1999), AL-MAZROU et al 1 (2001), COBAN et al 3 (2003), SZETO et al 19 (2005), GUION-ALMEIDA et al 6 (2007) and CASTORI et al 2 (2007). The aim of this paper is to describe the clinical features of two further patients with Pai syndrome, treated at the Alessandria Children Hospital, and to review the literature to describe the phenotype of this rare form of frontonasal dysplasia.…”

Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): A case report and literature review

“…Mishima et al [10] reported 14 patients with median cleft of the upper lip and polypoid skin masses. Three in addition to their reported patient also had lipoma of the corpus callosum, i.e.…”