Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome
| Autor: | Dorit Lev, Benjamin Deloison, Pierre-Simon Jouk, Guillaume Benoist, Marianne Alison, Ferechté Razavi, Yves Ville, M. Cavallin, A.-E. Millischer-Bellaiche, Bettina Bessières, Pascale Sonigo, Nadia Bahi-Buisson, Clarisse Baumann, Thibaud Quibel, Cherif Beldjord, Nathalie Boddaert, Chloé Quélin, Laurent Salomon |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Prenatal diagnosis 03 medical and health sciences Epilepsy 0302 clinical medicine Neuroimaging Periventricular Nodular Heterotopia Pregnancy hemic and lymphatic diseases Prenatal Diagnosis Genetics Medicine FLNA Humans Child Genetics (clinical) Retrospective Studies Fetus business.industry Brain Infant Retrospective cohort study General Medicine medicine.disease Phenotype Magnetic Resonance Imaging 030104 developmental biology Child Preschool Female business 030217 neurology & neurosurgery Ventriculomegaly |
| Zdroj: | European journal of medical genetics. 61(12) |
| ISSN: | 1878-0849 |
| Popis: | Objectives Periventricular nodular heterotopia (PNH) is a malformation of cortical development which presents with heterogeneous imaging, neurological phenotype and outcome. There is a paucity of comprehensive description detailing the prenatal diagnosis of PNH. The aim of this study is to report neuroimaging features and correlated outcomes in order to delineate the spectrum of prenatally diagnosed PNH. Methods It was a retrospective study over 15 years in five tertiary centers. All fetuses with prenatally diagnosed PNH were collected. Fetal ultrasound and MRI were reviewed and genetic screening collected. Prenatal findings were analyzed in correlation to fetopathological analyses and post-natal follow up. Results Thirty fetuses (22 females and 8 males) with PNH were identified. The two major ultrasound signs were ventriculomegaly associated with dysmorphic frontal horns (60%) and posterior fossa anomalies (73.3%). On MRI, two groups of PNH were identified: the contiguous and diffuse PNH (n = 15, 50%), often associated with megacisterna magna, and the non-diffuse, either anterior, posterior or unilateral PNH. FLNA mutations were found in 6/11 cases with diffuse PNH. Additional cortical malformations were exclusively observed in non diffuse PNH (9/15; 60%). Twenty-four pregnancies (80%) were terminated. Six children aged 6 months to 5 years are alive. Five have normal neurodevelopment (all had diffuse PNH) whereas one case with non diffuse PNH has developmental delay and epilepsy. Conclusion PNH is heterogeneous but patients with diffuse PNH are a common subgroup with specific findings on prenatal imaging and implications for prenatal counseling. |
| Databáze: | OpenAIRE |
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