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Sac-Type Congenital Diaphragmatic Hernia: A Case Report of Two Siblings

Chisato Kodera1, Takashi Ohba1, Tomomi Hashimoto2

  • 1Department of Obstetrics and Gynecology, Faculty of Life Science, Kumamoto University, Japan.

Case Reports in Obstetrics and Gynecology
|August 31, 2018
PubMed

Insights

Two siblings presented with congenital diaphragmatic hernia (CDH), a severe birth defect. This rare familial occurrence suggests a potential genetic cause for CDH, highlighting the need for prenatal evaluation in at-risk siblings.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Developmental Biology

Background:

  • Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly involving abdominal contents herniating through a diaphragm defect.
  • While often sporadic, familial recurrence of CDH, particularly isolated forms, warrants further investigation into genetic factors.

Observation:

  • This report details the first known case of two siblings diagnosed with possibly isolated sac-type CDH.
  • The second sibling exhibited a more severe respiratory presentation compared to the first.

Findings:

  • Sibling recurrence of isolated CDH, though rare, occurs at a higher incidence than in the general population.
  • The presentation suggests a potential genetic etiology underlying this familial CDH case.

Implications:

  • This case underscores the importance of considering genetic factors in isolated CDH.
  • Siblings of CDH patients are at increased risk, necessitating individualized prenatal evaluation and genetic counseling.

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