A late and unusual diagnosis of intrathoracic stomach

Abstract

A 2-month-old girl came to our Radiology Department to perform an abdominal ultrasound. At 38 weeks she was born and she was hospitalized for 3 weeks due to intrauterine growth retardation and hypotonia and the results of the medical study were normal, included cerebral and abdominal ultrasound exception karyotype (47 XX with chromosome marker of unknown origin). At 2 months, an abdominal ultrasound was performed with the diagnosis of supradiaphragmatic stomach and infradiaphragmatic duodenal bulb. Subsequently, an upper gastrointestinal contrast study was carried out that confirmed the diagnosis of intrathoracic stomach. No vomiting or regurgitation even if she presented a lot of hiccups during feeding. The genetic study was extended and a Fluorescence in situ hybridization (FISH) testing was performed with the diagnosis of Trisomy of the centromeric region of the chromosome 20. At 3 months of age, surgery was performed and the diagnosis was intrathoracic stomach with normal esophagus. The congenital intrathoracic stomach is an extremely rare and serious congenital pathology that requires timely recognition and adequate medical and surgical management because may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. The presence of an intrathoracic hypoechoic image without displacement of the mediastinum seems to be very suggestive of the presence of congenital intrathoracic stomach. The treatment must be immediate at birth given the high mortality related to the bronchial aspirate of the gastric content or the possibility of a gastric volvulus.