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Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series
Author(s) -
Teixeira Sara R.,
Blondiaux Eléonore,
Cassart Marie,
Couture Alain,
Moutard MarieLaure,
Whalen Sandra,
Gelot Antoinette,
Ducou le Pointe Hubert,
Garel Catherine
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4543
Subject(s) - medicine , flna , magnetic resonance imaging , prenatal diagnosis , fetus , gestational age , pathology , radiology , pregnancy , genetics , filamin , cytoskeleton , cell , biology
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. Conclusion 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.