title: Morgagni hernia with Down syndrome: a rare association -- case report and review of literature.
abstract: Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with Down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. Literature review revealed only 18 cases of Morgagni hernia with Down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in Down syndrome.
authors.affiliation: Department of Paediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai - 400 012, Maharashtra, India. rameshparmar@yahoo.com
authors.forename: R C
authors.initials: RC
authors.lastname: Parmar
authors.forename: M S
authors.initials: MS
authors.lastname: Tullu
authors.forename: S B
authors.initials: SB
authors.lastname: Bavdekar
authors.forename: S S
authors.initials: SS
authors.lastname: Borwankar
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D004314:Down Syndrome; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000000981:diagnostic imaging; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012131:Respiratory Insufficiency / Q000209:etiology