Pediatric Radiology

, Volume 45, Issue 6, pp 936–940 | Cite as

Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele

  • Tomas DobrockyEmail author
  • Lukas Ebner
  • Benjamin Liniger
  • Christian Weisstanner
  • Enno Stranzinger
Case Report


Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele.


Pai syndrome Prenatal diagnosis Magnetic resonance imaging Ultrasound Fetus Neonate 


Conflicts of interest



  1. 1.
    Pai GS, Levkoff AH, Leithiser RE (1987) Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet 26:921–924CrossRefPubMedGoogle Scholar
  2. 2.
    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 158A:2899–2904CrossRefPubMedGoogle Scholar
  3. 3.
    Ergün R, Okten AI, Bostanci U (1999) An unusual case of cephalocele associated with lipoma of corpus callosum. Pediatr Neurosurg 30:30–32CrossRefPubMedGoogle Scholar
  4. 4.
    Tortori-Donati P, Rossi A (2005) Cephaloceles. In: Pediatric neuroradiology. Springer, Berlin, pp 72–86Google Scholar
  5. 5.
    Suwanwela C (1972) Geographical distribution of fronto-ethmoidal encephalomeningocele. Br J Prev Soc Med 26:193–198PubMedCentralPubMedGoogle Scholar
  6. 6.
    Klein O, Thompson D (2007) Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. J Neurosurg 107:244–247CrossRefPubMedGoogle Scholar
  7. 7.
    Blouet M, Belloy F, Jeanne-pasquier C et al (2014) Pai syndrome: challenging prenatal diagnosis and management. Pediatr Radiol 44:1184–1187CrossRefPubMedGoogle Scholar
  8. 8.
    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
  9. 9.
    Szeto C, Tewfik TL, Jewer D, Rideout A (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 Otorhi 69:1247–52Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Tomas Dobrocky
    • 1
    Email author
  • Lukas Ebner
    • 1
  • Benjamin Liniger
    • 2
  • Christian Weisstanner
    • 3
  • Enno Stranzinger
    • 1
  1. 1.Department of Interventional, Pediatric and Diagnostic RadiologyInselspital University Hospital, University of BernBernSwitzerland
  2. 2.Department of Pediatric SurgeryInselspital University Hospital, University of BernBernSwitzerland
  3. 3.Department of Diagnostic and Interventional NeuroradiologyInselspital University Hospital, University of BernBernSwitzerland

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