Pediatric Radiology

, Volume 48, Issue 8, pp 1172–1177 | Cite as

Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure

  • Fernanda Del Campos Braojos
  • Carolina V. A. GuimaraesEmail author
Case Report


Dysplastic megalencephaly, also known as bilateral hemimegalencephaly, is a rare cerebral malformation characterized by bilateral cerebral hemisphere overgrowth and extensive malformation of cortical development. Affected patients present clinically with intractable seizures, severe neurological impairment and global developmental delay. There is a small body of literature reporting megalencephaly’s association with neonatal high-output cardiac failure and a lack of literature describing prenatal findings. We report a case of dysplastic megalencephaly presenting with progressive high-output cardiac failure during fetal life. Prenatal and postnatal imaging findings as well as neonatal course are described. A companion case with similar imaging findings will help illustrate the prenatal imaging characteristics of this association. Knowledge of this potential complication related to dysplastic megalencephaly may help guide parental counseling and obstetric management.


Brain Dysplastic megalencephaly Fetus High-output cardiac failure Magnetic resonance imaging 


Compliance with ethical standards

Conflicts of interest



  1. 1.
    Mirzaa GM, Poduri A (2014) Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C Semin Med Genet 166C:156–172CrossRefPubMedGoogle Scholar
  2. 2.
    Walters BC, Burrows PE, Musewe N et al (1989) Unilateral megalencephaly associated with neonatal high output cardiac failure. Childs Nerv Syst 6:123–125CrossRefGoogle Scholar
  3. 3.
    Abdel Razek AA, Kandell AY, Elsorogy LG et al (2009) Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol 30:4–11CrossRefPubMedGoogle Scholar
  4. 4.
    Mirzaa GM, Conway RL, Gripp KW et al (2012) Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 158A:269–291CrossRefPubMedGoogle Scholar
  5. 5.
    Jansen LA, Mirzaa GM, Ishak GE et al (2015) PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 138:1613–1628CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Prayer D, Prayer L, Kasprian G et al (2006) MRI of normal fetal brain development. Eur J Radiol 57:199–216CrossRefPubMedGoogle Scholar
  7. 7.
    Statile CJ, Cnota JF, Gomien S et al (2013) Estimated cardiac output and cardiovascular profile score in fetuses with high cardiac output lesions. Ultrasound Obstet Gynecol 41:54–58CrossRefPubMedGoogle Scholar
  8. 8.
    Barkovich AJ, Chuang SH (1990) Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. AJNR Am J Neuroradiol 11:523–531Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Fernanda Del Campos Braojos
    • 1
    • 2
  • Carolina V. A. Guimaraes
    • 1
    • 3
    Email author
  1. 1.Department of RadiologyTexas Children’s HospitalHoustonUSA
  2. 2.Faculdade de Medicina de São José do Rio Preto (FAMERP)Hospital da Criança e Maternidade de São José do Rio PretoSão José do Rio PretoBrazil
  3. 3.Department of Radiology, Lucile Packard Children’s HospitalStanford UniversityStanfordUSA

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