An undetected Cornelia De Lange Syndrome: A rare cause of erosive oesophagitis in an adult
Journal Title: Saudi Journal of Medicine - Year 2017, Vol 2, Issue 4
Abstract
Abstract: Cornelia De Lange Syndrome is a rare syndrome with multiple congenital abnormalities, characteristic facial appearance, prenatal and postnatal growth delay, behavioral changes and numerous gastrointestinal manifestations, out of which gastroesophagial reflux disease (GERD) contributes to high degree of disease burden. The syndrome rarely persists into adulthood. Though isolated diagnosis of GERD in a young adult in a general medical ward is a common encounter, arriving at a syndromic diagnosis considering the detailed history, clinical features and endoscopic evidence of severe reflux oesophagitis, in a 26 year old male who presented with recurrent bouts of haemetemesis, highlights the importance of pattern recognition; an important tool in clinical diagnosis even in modern day practice. Keywords: Cornelia De Lange Syndrome, Gastroesophagial reflux disease,
Authors and Affiliations
DinushiDilanka Dikowita, Perinpanathan Niranjini, A. N. R Fernandopulle, Thirunavukarasu Kumanan
Keywords
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