EC Paediatrics

Marfan syndrome is a systemic connective tissue disorder caused predominantly by pathogenic variants in the FBN1 gene. Dural ectasia is a well-recognized spinal manifestation, typically involving the lumbosacral region, and although frequently asymptomatic, its recognition is important because progressive dural enlargement may lead to secondary osseous remodeling, neurological manifestations, or cerebrospinal fluid leakage. We report the case of a 9-year-old girl with known Marfan syndrome who underwent spinal magnetic resonance imaging (MRI) because of difficulty maintaining head control and for assessment of associated spinal abnormalities. MRI demonstrated diffuse enlargement of the dural sac, predominantly involving the lumbar and lumbosacral regions, without significant posterior vertebral scalloping, osseous remodeling, or dural diverticula. Quantitative assessment was performed using the dural sac ratio (DSR) from L1 to S1. Evaluation of the craniovertebral junction additionally revealed basilar impression. In the absence of complications attributable to the dural ectasia, conservative management was considered appropriate. This case highlights the importance of recognizing dural ectasia in children with Marfan syndrome, as MRI allows both morphological and quantitative assessment, detection of associated complications, and establishment of a baseline for subsequent evaluation during skeletal growth.

Keywords: Marfan Syndrome; Dural Ectasia; Dural Sac Ratio; Magnetic Resonance Imaging; Pediatric Imaging; Basilar Impression