Download PDF
Neuropediatrics 2016; 47(01): 057-060
DOI: 10.1055/s-0035-1566447
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

Joel Fluss
1   Pediatric Neurology, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland
,
Jean-Marie Pellegrinelli
2   Department of Gynecology and Obstetrics, University Hospitals of Geneva, Geneva, Switzerland
,
Siv Fokstuen
3   Genetic Medicine, University Hospitals of Geneva, Switzerland
,
Marie-Laure Moutard
4   Pediatric Neurology, Hôpital d'Enfants Armand-Trousseau, Paris, France
,
Catherine Garel
5   Department of Pediatric Radiology, Hôpital d'Enfants Armand-Trousseau, Paris, France
,
Nadia Bahi-Buisson
6   Service de Neurologie pédiatrique, Hôpital Necker Enfants Malades, Paris, France
,
Marie-Hélène Bilieux
2   Department of Gynecology and Obstetrics, University Hospitals of Geneva, Geneva, Switzerland
,
Sylviane Hanquinet
7   Pediatric Radiology Unit, University of Geneva Children's Hospital, Switzerland
› Author Affiliations
Further Information

Publication History

17 June 2015

19 September 2015

Publication Date:
16 November 2015 (online)

Also available at
    Permissions and Reprints

Abstract

Severe fetal ventriculomegaly is generally associated with poor prognosis in terms of survival and neurodevelopment outcome. As such, many parents opt to terminate the pregnancy independently of a known etiology. We report here the case of a female fetus with severe progressive ventriculomegaly due to the unexpected presence of bilateral nodular periventricular heterotopias visualized on MRI of a fetal brain. Reaching a structural diagnosis was perceived as a relief for the parents and the pregnancy was continued. Neurodevelopment assessment at 3 years of age is normal with no epilepsy.

Keywords

severe ventriculomegaly - fetal neurology - periventricular nodular heterotopias - outcome
 

  • References

  • 1 D'Addario V. Fetal mild ventriculomegaly: still a challenging problem. J Perinat Med 2015; 43 (1) 5-9
    PubMedGoogle Scholar
  • 2 Blondiaux E, Sileo C, Nahama-Allouche C , et al. Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol 2013; 42 (2) 149-155
    PubMedGoogle Scholar
  • 3 Weichert J, Hartge D, Krapp M, Germer U, Gembruch U, Axt-Fliedner R. Prevalence, characteristics and perinatal outcome of fetal ventriculomegaly in 29,000 pregnancies followed at a single institution. Fetal Diagn Ther 2010; 27 (3) 142-148
    CrossrefPubMedGoogle Scholar
  • 4 Melchiorre K, Bhide A, Gika AD, Pilu G, Papageorghiou AT. Counseling in isolated mild fetal ventriculomegaly. Ultrasound Obstet Gynecol 2009; 34 (2) 212-224
    PubMedGoogle Scholar
  • 5 Pagani G, Thilaganathan B, Prefumo F. Neurodevelopmental outcome in isolated mild fetal ventriculomegaly: systematic review and meta-analysis. Ultrasound Obstet Gynecol 2014; 44 (3) 254-260
    CrossrefPubMedGoogle Scholar
  • 6 Kennelly MM, Cooley SM, McParland PJ. Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome. Prenat Diagn 2009; 29 (12) 1135-1140
    CrossrefPubMedGoogle Scholar
  • 7 Breeze AC, Alexander PM, Murdoch EM, Missfelder-Lobos HH, Hackett GA, Lees CC. Obstetric and neonatal outcomes in severe fetal ventriculomegaly. Prenat Diagn 2007; 27 (2) 124-129
    CrossrefPubMedGoogle Scholar
  • 8 Guibaud L, Lacalm A. Etiological diagnostic tools to elucidate ‘isolated’ ventriculomegaly. Ultrasound Obstet Gynecol 2015; 46 (1) 1-11
    PubMedGoogle Scholar
  • 9 Bargalló N, Puerto B, De Juan C, Martinez-Crespo JM, Lourdes Olondo M. Hereditary subependymal heterotopia associated with mega cisterna magna: antenatal diagnosis with magnetic resonance imaging. Ultrasound Obstet Gynecol 2002; 20 (1) 86-89
    CrossrefPubMedGoogle Scholar
  • 10 Mitchell LA, Simon EM, Filly RA, Barkovich AJ. Antenatal diagnosis of subependymal heterotopia. AJNR Am J Neuroradiol 2000; 21 (2) 296-300
    PubMedGoogle Scholar
  • 11 Parrini E, Ramazzotti A, Dobyns WB , et al. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain 2006; 129 (Pt 7) 1892-1906
    CrossrefPubMedGoogle Scholar
  • 12 Felker MV, Walker LM, Sokol DK, Edwards-Brown M, Chang BS. Early cognitive and behavioral problems in children with nodular heterotopia. Epilepsy Behav 2011; 22 (3) 523-526
    CrossrefPubMedGoogle Scholar
  • 13 Bardón-Cancho EJ, Muñoz-Jiménez L, Vázquez-López M, Ruíz-Martín Y, García-Morín M, Barredo-Valderrama E. Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation. Pediatr Neurol 2014; 51 (3) 461-464
    CrossrefPubMedGoogle Scholar
  • 14 Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 2014; 13 (7) 710-726
    CrossrefPubMedGoogle Scholar
  • 15 Fallil Z, Pardoe H, Bachman R , et al; EPGP Investigators. Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. Epilepsy Behav 2015; 51: 321-327
    CrossrefPubMedGoogle Scholar