title: Familial Brain Periventricular Pseudocysts.
abstract: BACKGROUND
  We report the rare finding of recurrent periventricular pseudocysts (PVPC) in consecutive pregnancies in 4 families and their postnatal outcome.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Fetal Neurology Clinic, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Shiri
authors.initials: S
authors.lastname: Shinar
authors.forename: Gustavo
authors.initials: G
authors.lastname: Malinger
authors.forename: Zvi
authors.initials: Z
authors.lastname: Leibovitz
authors.forename: Liat
authors.initials: L
authors.lastname: Ben-Sira
authors.forename: Esther
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: Liat
authors.initials: L
authors.lastname: Gindes
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: Dvora
authors.initials: D
authors.lastname: Kidron
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
mesh_terms: D000028:Abortion, Induced; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D001932:Brain Neoplasms / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics / Q000473:pathology; D015331:Cohort Studies; D003560:Cysts / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics / Q000473:pathology; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D057286:Electronic Health Records; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D005625:Frontal Lobe; D006801:Humans; D007231:Infant, Newborn; D007557:Israel; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011247:Pregnancy; D011379:Prognosis; D012189:Retrospective Studies; D047929:Term Birth; D047368:Tumor Burden; D016216:Ultrasonography, Prenatal
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human
keywords: Fetal MRI; Fetal brain; Fetal ultrasound; Germinolysis; Periventricular pseudocysts; Prenatal insults