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Case Reports: Rare disease
Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome
  1. Mokshal Porwal1,
  2. Danyon Anderson1,
  3. Abrahim Nagayoshi Razzak1 and
  4. Garrett Fitzgerald2
  1. 1School of Medicine, Medical College of Wisconsin, Wauwatosa, Wisconsin, USA
  2. 2Department of Obstetrics and Gynecology, Medical College of Wisconsin, Wauwatosa, Wisconsin, USA
  1. Correspondence to Dr Garrett Fitzgerald; gafitzgerald{at}mcw.edu

Abstract

Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary widely, depending on the underlying aetiology. We report a case outlining the prenatal diagnostic process and obstetric considerations for delivering an infant with HME secondary to megalencephaly–capillary malformation syndrome. After diagnosis, our patient was induced and delivered at 37 weeks of gestation via operative vaginal delivery. To our knowledge, this is the first report describing the course from prenatal diagnosis through delivery of a fetus with HME.

  • Neurology
  • Obstetrics and gynaecology
  • Materno-fetal medicine
  • Neonatal and paediatric intensive care
  • Neonatal health

https://doi.org/10.1136/bcr-2022-249587

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    Footnotes

    • Contributors MP and GF were responsible for generation of the project idea. MP and DA were responsible for drafting the initial manuscript. ANR was responsible for subsequent edits to the initial draft, formatting and processing. GF was responsible for general oversight, patient care and providing expertise on the topic. All authors contributed significantly to writing and editing the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.