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

BMJ Case Rep. 2020 Nov 30;13(11):e238018. doi: 10.1136/bcr-2020-238018.

Abstract

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.

Keywords: congenital disorders; neonatal health.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Computed Tomography Angiography
  • Heart Septal Defects, Atrial
  • Horner Syndrome / congenital*
  • Horner Syndrome / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Male
  • Scimitar Syndrome* / diagnostic imaging
  • Ultrasonography, Prenatal