In the English language medical literature since 1975 the combination of congenital diaphragmatic hernia (CDH) and meningomyelocele (MMC) has been reported in only 17 patients (1-6). Population-based studies on CDH have reported serious associated malformations in 28%-47% of patients (3, 7-9). Prenatal diagnosis of the constellation of a CDH, MMC, and hydrocephalus has, to our knowledge, not been reported in the English language medical literature as identified by Medline, Embase, and additional hand-search of references.
Case reportA 26 year old healthy woman was referred in her second pregnancy. Thirteen years earlier she had recovered from Guillain-Barré syndrome, and she had given birth to a healthy girl four years earlier. There was no history of drug ingestion or consanguinity, and the detailed family history was unremarkable. A routine ultrasound examination performed at gestational week 18 showed a low positioned placenta, but no signs of fetal malformations. Due to a long lasting nausea and feelings of sickness, an additional ultrasound scan was undertaken at 30 weeks gestation. Fetal hydrocephalus was diagnosed, and the patient was referred for specialist ultrasound examination. Hydrocephalus was confirmed, and a large thoracolumbar MMC (Fig. 1), a large left-sided posterolateral diaphragmatic hernia (Fig. 2-3), and polyhydramnion was also diagnosed. Dextrocardia, herniation of bowels and the stomach into the thorax, but no liver her-
Abbreviations:CDH: congenital diaphragmatic hernia; MMC: meningomyelocele.C Acta Obstet Gynecol Scand 79 (2000) niation was seen (Fig. 3). No movements of the lower extremities could be registered.At 37 weeks' pregnancy the woman was delivered by elective cesarean section at a tertiary center. She delivered a girl with birthweight 2,800 g and Apgar score 2/5. The neonate had immediate respiratory insufficency, and was intubated after 5 minutes. The prenatal diagnoses were all confirmed clinically and by x-ray. No other anomalies were identified. Conventional ventilator treatment was given. Despite the resuscitative efforts, the infant died 26 hours old. The patient was not considered a candidate for ECMO due to multiple anomalies. Autopsy was denied by the parents and chromosome analysis was not undertaken. Fig. 1. A transverse section at the level of the meningomyelocele showing divergence of the lateral vertebral ossification centers.Fig. 2. A frontal section demonstrating the left-sided diaphragmatic hernia with intrathoracic stomach (VG), dextrocardia (COR), and a normal urinary bladder.