Familial Brain Periventricular Pseudocysts

Fetal Diagn Ther. 2017;42(1):42-47. doi: 10.1159/000448951. Epub 2016 Oct 7.

Abstract

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.

Keywords: Fetal MRI; Fetal brain; Fetal ultrasound; Germinolysis; Periventricular pseudocysts; Prenatal insults.

Publication types

  • Multicenter Study

MeSH terms

  • Abortion, Induced
  • Adaptor Proteins, Signal Transducing / genetics
  • Brain Neoplasms / diagnostic imaging*
  • Brain Neoplasms / embryology
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Cohort Studies
  • Cysts / diagnostic imaging*
  • Cysts / embryology
  • Cysts / genetics
  • Cysts / pathology
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Electronic Health Records
  • Family Health*
  • Female
  • Follow-Up Studies
  • Frontal Lobe
  • Humans
  • Infant, Newborn
  • Israel
  • Magnetic Resonance Imaging
  • Membrane Proteins / genetics
  • Mutation
  • Pregnancy
  • Prognosis
  • Retrospective Studies
  • Term Birth
  • Tumor Burden
  • Ultrasonography, Prenatal

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human