Pyloric stenosis in an iniencephalic infant with a congenital intra-thoracic stomach

• DOI: 10.1007/s00383-009-2479-7
• Publication Date: 2009-09-01T11:05:48Z
• Authors: Lucinda C. Winckw...; Clare M. Rees; Tiffany Fan; Munther Haddad; Simon A. Clarke
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Infant, Newborn; Stomach Diseases; Humans; Female; Pyloric Stenosis, Hypertrophic; Neural Tube Defects; 3. Good health

We report the first case of hypertrophic pyloric stenosis in an intrathoracic stomach in a neonate with congenital ultra-short oesophagus and iniencephaly clausus. Antenatal ultrasound detected right-sided thoracic cystic lesions and postnatal investigations revealed an intra-thoracic stomach and spleen with an ultra-short oesophagus and intact diaphragm. Subsequently, she developed pyloric stenosis. Such neonates require urgent referral to surgical centres for what is a challenging diagnosis and complicated management.