Congenital Horner and Scimitar Syndrome: Case Report

Introduction: Horner syndrome is a classic neurological syndrome which signs usually include miosis, ptosis and anhidrosis. It can be caused by a lesion anywhere along the sympathetic pathway that supplies the head, eye and neck. A congenital Horner syndrome should be suspected when anisocoria is associated with heterochromia.

Scimitar syndrome is a congenital cardiovascular anomaly in which part or even the entire right lung is drained by right pulmonary veins that connect anomalously to the inferior vena cava.

Case Report: A full-term male newborn presented with left palpebral ptosis, anisocoria and heterochromia. Cleft palate and a heart murmur were also present. During pregnancy, no complications occurred until the third trimester, when a dilated cardiac sinus was detected in a routine fetal ultrasound. Within the first three months of life cleft palate was surgically corrected and an echocardiogram was performed, revealing an interauricular communication with left-to-right shunt.

Congenital Horner syndrome was suspected and, in order to rule out neuroblastoma, several exams were performed. Cerebral CT scan, karyotype and urinary levels of vanillylmandelic and homovanillic acids were normal. Thoracoabdominal CT scan revealed an alveolar infiltrate in the upper lobe of the right lung with evidence of anomalous drainage of most of the right lung to the inferior vena cava, suggesting Scimitar syndrome. Also, right cardiac chambers were found prominent, associated with a significant left-to-right shunt.

The child is currently 21 months old and has reached every developmental milestone so far, with an adequate growth. A multidisciplinary team is currently following the case.

Conclusion: With this case report the authors aim to alert the medical community to the importance of an early diagnosis, since clinical aspects described may be subtle. Therefore, a high index of suspicion is particularly relevant as well as setting a multidisciplinary team in order to guarantee an adequate follow-up.