Pediatric Radiology

, Volume 44, Issue 9, pp 1184–1187 | Cite as

Pai syndrome: challenging prenatal diagnosis and management

  • Marie Blouet
  • Frédérique Belloy
  • Corinne Jeanne-Pasquier
  • Nathalie Leporrier
  • Guillaume Benoist
Case Report


Pai syndrome is a rare disorder that includes midline cleft lip, pericallosal lipoma and cutaneous polyp of the face. We report a case of prenatal diagnosis using sonography and MRI. We emphasize the importance of facial examination with prenatal association of midline cleft lip and pericallosal lipoma in making the diagnosis of Pai syndrome.


Pai syndrome Pericallosal lipoma Midline cleft lip Cutaneous polyp Fetal magnetic resonance imaging Ultrasound Fetus 


  1. 1.
    Pai GS, Levkoff AH, Leithiser RE Jr (1987) Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet 26:921–924PubMedCrossRefGoogle Scholar
  2. 2.
    Ocak Z, Yazicioglu HF, Aygun M et al (2013) Prenatal detection of Pai syndrome without cleft lip and palate: a case report. Genet Couns 24:1–5PubMedGoogle Scholar
  3. 3.
    Ickowitz V, Eurin D, Rypens F et al (2001) Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases. AJNR Am J Neuroradiol 22:767–772PubMedGoogle Scholar
  4. 4.
    Chousta A, Ville D, James I et al (2008) Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings. Ultrasound Obstet Gynecol 32:708–710PubMedCrossRefGoogle Scholar
  5. 5.
    Castori M, Rinaldi R, Bianchi A et al (2007) Pai syndrome: first patient with agenesis of the corpus callosum and literature review. Birth Defects Res A Clin Mol Teratol 79:673–679PubMedCrossRefGoogle Scholar
  6. 6.
    Lederer D, Wilson B, Lefesvre P et al (2012) Atypical findings in three patients with Pai syndrome and literature review. Am J Med Genet A 158:2899–2904CrossRefGoogle Scholar
  7. 7.
    Szeto C, Tewfik TL, Jewer D et al (2005) Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review. Int J Pediatr Otorhinolaryngol 69:1247–1252PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Marie Blouet
    • 1
    • 2
  • Frédérique Belloy
    • 1
  • Corinne Jeanne-Pasquier
    • 3
  • Nathalie Leporrier
    • 2
    • 4
  • Guillaume Benoist
    • 2
    • 5
  1. 1.Department of RadiologyCentre Hospitalier Universitaire de CaenCaenFrance
  2. 2.University of Lower NormandieCaenFrance
  3. 3.Department of PathologyCentre Hospitalier Universitaire de CaenCaenFrance
  4. 4.Department of GeneticsCentre Hospitalier Universitaire de CaenCaenFrance
  5. 5.Department of Obstetrics and GynecologyCentre Hospitalier Universitaire, Pôle Femmes-EnfantsCaenFrance

Personalised recommendations