Neuroradiological findings of trisomy 13 in a rare long-term survivor

Abstract

Patau syndrome remains a difficult diagnosis for parents and a challenging conversation for clinicians due to the overall poor prognosis. Previous population-based reports have documented the sobering life expectancies of these patients, with few surviving to 1 year of age. Despite the high mortality rate in infants born with trisomy 13, there are several reports of survival into late childhood and early adulthood. While clinical outcomes have been well documented, there has been a paucity of literature describing postnatal imaging findings in long-term survivors. We present a case report of a 2-year-old girl with trisomy 13 who underwent brain magnetic resonance imaging examination at our institution to evaluate for possible structural abnormalities contributing to central sleep apnea. We describe the clinical and postnatal neuroimaging findings of this rare patient with trisomy 13. Understanding the spectrum of neuroradiological findings in long-term survivors with trisomy 13, in combination with other organ system abnormalities, could add important clinical information and help better predict patient outcomes and expectations among parents.