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Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination

Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage o...

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Bibliographic Details
Published in:BMJ case reports 2020-11, Vol.13 (11), p.e238018
Main Authors: Carvalho, Joana, Maia, Mariana, Mota, Ágata, Martins, Teresa
Format: Article
Language:English
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Summary:Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage of right pulmonary veins to a collector that drains to the inferior vena cava, leading to the diagnosis of Scimitar syndrome. Echocardiogram showed an ostium secundum atrial septal defect, enlarged right chambers and a dilated coronary sinus due to a persistent left superior vena cava. The combination of Horner and Scimitar syndrome has never been described before. This case should encourage clinicians to use a multidisciplinary approach in order to guarantee an adequate diagnosis and management.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2020-238018