Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series. (5th January 2015)

• Record Type: Journal Article
• Authors: Teixeira, Sara R.; Blondiaux, Eléonore; Cassart, Marie; Couture, Alain; Moutard, Marie‐Laure; Whalen, Sandra; Gelot, Antoinette; Ducou le Pointe, Hubert; Garel, Catherine; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)‐SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale)
• Is Part Of: Prenatal diagnosis. Volume 35:Number 4(2015:Apr.)
• Page Start: 337
• Page End: 341
• Publication Date: 2015-01-05
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4543
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="pd4543-sec-0001" sec-type="section"> <title>Objective</title> <p>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.</p> </sec> <sec id="pd4543-sec-0002" sec-type="section"> <title>Methods</title> <p>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 (<italic>FLNA</italic>) were searched for (<italic>n</italic> = 6). Maternal brain MRI was performed (<italic>n</italic> = 8). Post‐mortem or postnatal data were recorded.</p> </sec> <sec id="pd4543-sec-0003" sec-type="section"> <title>Results</title> <p>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 (<italic>n</italic> = 3), autopsy (<italic>n</italic> = 7) and/or post‐mortem MRI (<italic>n</italic> = 2) or US (<italic>n</italic> = 1). Maternal brain MRI showed PVNH in one case. A <italic>de novo FLNA</italic> mutation was found in four cases.</p> </sec> <sec id="pd4543-sec-0004" sec-type="section"> <title>Conclusion</title> <p>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.</p> </sec> </abstract>