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

Abstract

Congenital diaphragmatic hernia (CDH), a herniation of the abdominal contents through a defect or hypoplasia of the diaphragm, is a relatively common, severe congenital anomaly. Here we present the first case of two siblings with possibly isolated sac-type CDH and with a suspected genetic etiology. Although sibling recurrence of isolated CDH is rare, the incidence is higher than in the general population. Additionally, the second child had a more severe respiratory disorder than the first child. It is to be noted that siblings of children having isolated CDH are at risk for CDH, and prenatal evaluation should be considered individually.

Figure 1

(a) A chest X-ray showed eventration of the left hemidiaphragm (arrow) on the first day after birth. (b) Magnetic resonance imaging revealed left sac-type CDH (arrow) at 21 days after birth.

Figure 2

(a) Fetal echography showed a smooth-surface cystic lesion 29 × 44 mm in diameter in the left dorsal thorax (arrow). (b) Magnetic resonance imaging at 37 weeks of gestation suggested left sac-type CDH. The stomach and spleen were herniated into the left chest (arrow).

Figure 3

Growth curve of first (III-2) and second (III-4) infants suggested postnatal growth failure.

Figure 4

Pedigree of the family with familial CDH. Affected boy (■) and girl (●), spontaneous abortion (△), and SGA infant (lined square, lined circle) found in the paternal family.