Pediatric Radiology

, Volume 48, Issue 7, pp 1032–1034 | Cite as

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus

  • Beth M. Kline-FathEmail author
  • Arnold C. MerrowJr.
  • Maria A. Calvo-Garcia
  • Usha D. Nagaraj
  • Howard M. Saal
Case Report


Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly–hydrocephaly complex. On prenatal imaging, the presence of significant parenchymal loss in the supratentorial and infratentorial brain is a clue to the diagnosis, which should prompt early genetic testing.


Fetus Fowler syndrome Hydranencephaly Hydrocephalus Magnetic resonance imaging 


Compliance with ethical standards

Conflicts of interest



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Copyright information

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

Authors and Affiliations

  • Beth M. Kline-Fath
    • 1
    • 2
    Email author
  • Arnold C. MerrowJr.
    • 1
    • 2
  • Maria A. Calvo-Garcia
    • 1
    • 2
  • Usha D. Nagaraj
    • 1
    • 2
  • Howard M. Saal
    • 2
    • 3
  1. 1.Department of Radiology and Medical ImagingCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  2. 2.University of Cincinnati College of MedicineCincinnatiUSA
  3. 3.Division of Human Genetics, Department of PediatricsCincinnati Children’s Hospital Medical CenterCincinnatiUSA

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