P659 Cornelia de Lange syndrome and spontaneously regressive bronchogenic cyst about a unusual case

• Published in: Archives of disease in childhood Vol. 104; no. Suppl 3; p. A412
• Main Authors: Safi, Faiza, Trichilli, Sahar, Hsairi, Manel, Gargouri, Lamia, Regaieg, Chiraz, Dhaou, Mahdi Ben, Gargouri, Abdellatif, Mahiri, Riadh, Mahfoudh, Abdelmajid
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01-06-2019
• Subjects: Childrens health; Cysts; Daughters; Exploration; Growth rate; Microencephaly; Nose; Pediatrics; Pneumonitis; Scientific Concepts; Thorax; Ultrasonic imaging; Ultrasound; Uterus
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2019-epa.989

IntroductionCornelia de Lange syndrome is characterized by intra uterine and postnatal growth retardation, developmental disorder, facial dysmorphism, hypertrichosis, and organ malformations. The association with a bronchogenic cyst is unusual.Case reportThis is an 8-month-old male, born at term from a non-consanguineous marriage. He was hospitalized twice for recurrent pneumonitis. It was addressed for further exploration.On clinical examination, he had microcephaly, a low set of hair on the forehead, arched and confluent eyebrows, long eyelashes, a wide nose root, anteverted nostrils, a long and bulging philtrum, a mouth falling at the corners and a very thin upper lip, a low implantation of the ears and a micro-retrognatism. He was puny with a weight loss of -4 DS. Biologically, the infectious balance was negative.An abdominal ultrasound performed was without abnormalities as well as the transfontanellar ultrasound. A thoracic CT showed a large right mediastinal hilar cystic mass measuring 69x68x44 mm with fluid density and regular clean wall enhanced after injection of contrast agent dealing with a bronchogenic cyst. The therapeutic abstention was opted. The evolution was marked by the spontaneous regression of the cyst.ConclusionCornelia De Lange syndrome is rare with variable severity. The association with bronchogenic cyst which had spontaneously regressive evolution is a rare entity.