Navigating Complexity: A Rare Case of Down Syndrome With Dural Venous Thrombosis in a Neonate

Abstract

This case report presents a unique clinical scenario of a 2 kg male neonate with Down syndrome complicated by dural venous thrombosis. Born via normal vaginal delivery, the infant exhibited syndromic features characteristic of Down syndrome, necessitating admission to the neonatal intensive care unit (NICU) for respiratory distress. Confirmatory karyotyping established the diagnosis. Subsequent complications included germinal matrix haemorrhage, hypoxic-ischemic encephalopathy, and aspiration pneumonia. An MRI revealed dural venous thrombosis in the left transverse sinus, an uncommon manifestation in neonates with Down syndrome. Multidisciplinary management involved respiratory support, antibiotic therapy, and neurophysiotherapy. Infectious complications, including Klebsiella pneumoniae growth, required tailored antibiotic intervention. Despite intubation and CO₂ retention challenges, the neonate improved and was ultimately discharged with favourable anthropometric measurements. This case underscores the importance of a comprehensive approach to neonatal care in the context of Down syndrome, emphasising the need for early recognition and management of rare complications such as venous thrombosis. The positive outcome highlights the efficacy of a multidisciplinary strategy in addressing complex neonatal conditions.

Keywords: aspiration pneumonia; down syndrome; dural venous thrombosis; multidisciplinary management; neonate; neurophysiotherapy; respiratory distress.