Prenatal and Postnatal Ultrasound Findings of Congenital Diaphragmatic Hernia Associated With Myelomeningocele, Chiari II Malformation, and Renal Dysplasia.
Fatih Isleyen, Muzeyyen Kalkan
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Case in brief
A female neonate born at 35 weeks had severe left-sided Bochdalek congenital diaphragmatic hernia, lumbosacral myelomeningocele, Chiari II malformation, and unilateral renal dysplasia. Prenatal and postnatal ultrasound findings documented the multisystem anomalies. The mother had not taken folic acid supplements. The infant developed persistent pulmonary hypertension and received intensive care, including inhaled nitric oxide, but died at 72 hours.
What made this case unusual
The combination of congenital diaphragmatic hernia with myelomeningocele, Chiari II malformation, and unilateral renal dysplasia is an unusual multisystem presentation.
Diagnostic / clinical pearl
Prenatal ultrasound can identify congenital diaphragmatic hernia alongside neural tube and renal anomalies, helping define the extent of associated multisystem abnormalities.