Sol akciğer ve safra kesesi agenezisi ile birlikte bilateral diyafragma agenezisi

Abstract

Bilateral agenesis of diaphragm with agenesis of left lung and gall bladder Background: 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 associated frequently with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. Case: A 2240g male infant was born at 35 weeks' gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. He 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 gall bladder agenesis. Cytogenetic studies showed normal male karyotype. Conclusions: Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Also, bilateral agenesis of the diaphragm associated with gall bladder and unilateral pulmonary agenesis is a rare entity and its clinical significance needsfurther investigation.