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A prenatally diagnosed patient was referred to our hospital at 35 weeks of gestation. Antenatal ultrasonography demonstrated cardiomegaly and aneurysm of the vein of Galen. A 3,290 g male baby was delivered by elective cesarean section at 37 weeks of gestation. Physical examination was remarkable for tachypnea, hyperdynamic precordium with a continuous murmur, cranial bruit and bounding carotid pulses. Magnetic resonance angiography confirmed vein of Galen aneurysmal malformation and demonstrated the vessels feeding the aneurysm. Postnatal management included aggressive medical treatment of cardiac failure and transarterial embolization of the vessels feeding the aneurysm at 3 days of age. Posthemorrhagic hydrocephalus developed after embolization, and a ventriculo-peritoneal shunt was placed at 29 days of age. Presently, the patient is 4 years of age and has no neurological abnormality at follow-up. Vein of Galen aneurysmal malformations can cause severe morbidity and mortality in neonates. However, careful obstetric follow-up and early postnatal endovascular treatment of these malformations may lead to a favorable outcome., (Copyright © 2011. Published by Elsevier B.V.)

Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation.