Familial Brain Periventricular Pseudocysts

Shiri Shinar, Gustavo Malinger, Zvi Leibovitz, Liat Ben-Sira, Esther Leshinsky-Silver, Liat Gindes, Tally Lerman-Sagie, Dvora Kidron, Dorit Lev

Research output: Contribution to journalArticlepeer-review


Introduction: We report the rare finding of recurrent periventricular pseudocysts (PVPC) in consecutive pregnancies in 4 families and their postnatal outcome. Materials and Methods: We reviewed the databases of 3 large ultrasound units searching for the diagnosis of PVPC in 2 pregnancies of the same patient. Results: The first case of recurrent PVPC was diagnosed in 2011 and since then 3 additional families were diagnosed (8 cases of PVPC all in all). All fetuses underwent fetal MRI that confirmed the presence of frontal or frontocaudal PVPC. Amniocentesis, when performed, demonstrated a normal karyotype. Termination of pregnancy was carried out in 2 pregnancies in 2 of 4 families. The remaining 6 pregnancies ended with a term delivery, and to date all babies are developing normally. Conclusion: The rare finding of recurrent brain PVPC in consecutive pregnancies raises the possibility of a hereditary etiology as opposed to a sporadic event. As in isolated PVPC, frontocaudal 'familial PVPC' appears to carry a favorable prognosis.

Original languageEnglish
Pages (from-to)42-47
Number of pages6
JournalFetal Diagnosis and Therapy
Issue number1
StatePublished - 1 Jul 2017


  • Fetal MRI
  • Fetal brain
  • Fetal ultrasound
  • Germinolysis
  • Periventricular pseudocysts
  • Prenatal insults


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