Late-presenting diaphragmatic hernia associated with intrathoracic kidney: Tachypnoea as unique clinical sign

Abstract

Intrathoracic renal ectopia associated with a congenital diaphragmatic hernia represents a very rare congenital malformation. The incidence of intrathoracic renal ectopia with congenital diaphragmatic hernia is reported to be less than 0.25%. The authors report on a 5-month-old female infant with late-presenting congenital diaphragmatic hernia associated with a left-sided intrathoracic ectopic kidney and adrenal gland. While prenatal ultrasound showed no pathology, the postnatal ultrasound assumed a left-sided renal agenesia. After recurrent episodes of tachypnoea, a chest x-ray confirmed the diagnosis of congenital diaphragmatic hernia which was repaired without complications. Intraoperatively, intrathoracic ectopic kidney was diagnosed. The authors discuss embryogenesis, the diagnostic algorithm and therapy as well as follow-up of this rare malformation.