title: Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
abstract: OBJECTIVE
  The association of periventricular nodular heterotopia (PVNH) with posterior fossa cyst (PFC) is documented after birth. We report this association in a series of fetuses.
  
  
  METHODS
  Eleven cases (7 females) of PVNH and PFC diagnosed at prenatal imaging were collected in this retrospective multicenter study. The patients were referred to tertiary centers for targeted ultrasonography (US) and Magnetic Resonance Imaging (MRI) following detection of PFC on routine US. Mutations of the filamin A gene (FLNA) were searched for (n = 6). Maternal brain MRI was performed (n = 8). Post-mortem or postnatal data were recorded.
  
  
  RESULTS
  Targeted US was performed at a mean gestational age of 29 (range; 23-35) weeks and identified PVNH in 4 cases. At MRI, performed at a mean gestational age of 31 (range; 29-35) weeks, PVNH and PFC were visible in all cases. Those findings were confirmed by postnatal MRI (n = 3), autopsy (n = 7) and/or post-mortem MRI (n = 2) or US (n = 1). Maternal brain MRI showed PVNH in one case. A de novo FLNA mutation was found in four cases.
  
  
  CONCLUSIONS
  We describe a series of PVNH and PFC in fetuses, which underlines the importance of searching for PVNH when PFC is identified at prenatal US. © 2014 John Wiley & Sons, Ltd.
authors.affiliation: Service de Radiologie, Hôpital d'Enfants Armand-Trousseau-Hôpitaux Universitaires de l'Est Parisien (APHP), Université Pierre et Marie Curie, Paris VI, France.
authors.forename: Sara R
authors.initials: SR
authors.lastname: Teixeira
authors.forename: Eléonore
authors.initials: E
authors.lastname: Blondiaux
authors.forename: Marie
authors.initials: M
authors.lastname: Cassart
authors.forename: Alain
authors.initials: A
authors.lastname: Couture
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Moutard
authors.forename: Sandra
authors.initials: S
authors.lastname: Whalen
authors.forename: Antoinette
authors.initials: A
authors.lastname: Gelot
authors.forename: Hubert
authors.initials: H
authors.lastname: Ducou le Pointe
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
mesh_terms: D003560:Cysts; D005260:Female; D006801:Humans; D015192:Infratentorial Neoplasms / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009154:Mutation; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000379:methods*