Literature DB >> 29594439

Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.

Fernanda Del Campos Braojos1,2, Carolina V A Guimaraes3,4.   

Abstract

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.

Entities:  

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

Mesh:

Year:  2018        PMID: 29594439     DOI: 10.1007/s00247-018-4121-0

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  8 in total

1.  PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Authors:  Laura A Jansen; Ghayda M Mirzaa; Gisele E Ishak; Brian J O'Roak; Joseph B Hiatt; William H Roden; Sonya A Gunter; Susan L Christian; Sarah Collins; Carissa Adams; Jean-Baptiste Rivière; Judith St-Onge; Jeffrey G Ojemann; Jay Shendure; Robert F Hevner; William B Dobyns
Journal:  Brain       Date:  2015-02-25       Impact factor: 13.501

Review 2.  MRI of normal fetal brain development.

Authors:  Daniela Prayer; Gregor Kasprian; Elisabeth Krampl; Barbara Ulm; Linde Witzani; Lucas Prayer; Peter C Brugger
Journal:  Eur J Radiol       Date:  2006-01-04       Impact factor: 3.528

Review 3.  Disorders of cortical formation: MR imaging features.

Authors:  A A K Abdel Razek; A Y Kandell; L G Elsorogy; A Elmongy; A A Basett
Journal:  AJNR Am J Neuroradiol       Date:  2008-08-07       Impact factor: 3.825

4.  Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics.

Authors:  A J Barkovich; S H Chuang
Journal:  AJNR Am J Neuroradiol       Date:  1990-05       Impact factor: 3.825

5.  Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Authors:  Ghayda M Mirzaa; Robert L Conway; Karen W Gripp; Tally Lerman-Sagie; Dawn H Siegel; Linda S deVries; Dorit Lev; Nancy Kramer; Elizabeth Hopkins; John M Graham; William B Dobyns
Journal:  Am J Med Genet A       Date:  2012-01-06       Impact factor: 2.802

6.  Unilateral megalencephaly associated with neonatal high output cardiac failure.

Authors:  B C Walters; P E Burrows; N Musewe; S H Chuang; D Armstrong
Journal:  Childs Nerv Syst       Date:  1990-05       Impact factor: 1.475

7.  Estimated cardiac output and cardiovascular profile score in fetuses with high cardiac output lesions.

Authors:  C J Statile; J F Cnota; S Gomien; A Divanovic; T Crombleholme; E Michelfelder
Journal:  Ultrasound Obstet Gynecol       Date:  2013-01       Impact factor: 7.299

Review 8.  Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

Authors:  Ghayda M Mirzaa; Annapurna Poduri
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-05-28       Impact factor: 3.908

  8 in total

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