Pericardial effusion with cardiac tamponade caused by a central venous catheter in a very low birth weight infant

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now beingused more frequently in neonatal intensive care. One of the life-threatening complications is pericardial effusion and cardiac tamponade; however,it is potentially reversible when it is caught in time. The authors present a case of cardiac tamponade following umbilical venous catheterisation ina neonate. The patient was diagnosed at the appropriate time by echocardiography and urgent pericardiocentesis proved lifesaving

Pericardial effusion with cardiac tamponade caused by a central venous catheter in a very low birth weight infant

With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more frequently in neonatal intensive care. One of the life-threatening complications is pericardial effusion and cardiac tamponade; however, it is potentially reversible when it is caught in time. The authors present a case of cardiac tamponade following umbilical venous catheterisation in a neonate. The patient was diagnosed at the appropriate time by echocardiography and urgent pericardiocentesis proved lifesaving.The Pan African Medical Journal 2016;2

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Abstract Background Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder. Case presentation This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient. We report on the clinical phenotype and molecular characterization of this patient. The patient was examined by a pluridisciplinary staff of clinicians and geneticist. The clinical diagnosis of NS and IP was confirmed by molecular investigations. The newborn girl came to our clinics due to flagrant dysmorphia and dermatological manifestations. The clinical observations led to characterize the Incontinentia Pigmenti traits and a suspicion of a Noonan syndrome association. Molecular diagnosis was performed by Haloplex resequencing of 29 genes associated with RASopathies and confirmed the NS diagnosis. The common recurrent intragenic deletion mutation in IKBKG gene causing the IP was detected with an improved PCR protocol. Conclusion This is the first report in the literature of comorbidity of NS and IP, two rare multisystem syndromes