Pai Syndrome: An Adult Patient With Bifid Nose and Frontal Hairline Marker

Abstract

A 17-year-old previously unreported patient with Pai syndrome is described. The boy had median cleft of upper lip, a polypoid skin mass over the columella, a minimal cleft of the upper central incisors, frontal alopecia of the anterior hairline, and bifid nose. Magnetic resonance imaging showed pericallosal lipoma. No mental retardation was present, and a chromosomal study showed normal male 46, XY karyotype.

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.…”

“…Patients usually present with hypertelorism (more than half the literature reports 3,11,14 ), therefore this syndrome should be included in the frontonasal dysplasia group of midfacial maformations.…”

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

“…As well as, another case reported by Coban et al [13] also displayed the prototypical characteristics of Pai syndrome. However, their patient also exhibited bifid nose and frontal hairline alopecia, which they interpreted as being further variations in the expression of Pai syndrome.…”

Obstrucción nasal unilateral en niños. Síndrome de Pai

“…12 El deterioro psicomotor no es una característica del SP. 4,5,11,14 La mayoría son asintomáticos, pero la sintomatología neurológica que suele asociarse al hallazgo de lipoma de CC en la edad infantil es la epilepsia, la cefalea recurrente, los retrasos madurativos y la parálisis cerebral infantil. 12,13 Su resección no está indicada, salvo en casos de hidrocefalia secundaria.…”

“…El síndrome de Pai (SP) es un trastorno congénito raro, caracterizado por la asociación de hendidura en la línea media del labio superior, pólipos cutáneos en la cara (principalmente en la mucosa nasal septal y gingival) y lipoma pericalloso. [2][3][4][5][6] Presentamos un paciente de sexo masculino, de 11 meses, con anomalías craneofaciales características del SP; entre ellas, un lipoma intracraneal, que fue un hallazgo de la evaluación preoperatoria.…”