European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
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Split cord malformation (SCM) is a rare congenital malformation of the spinal cord in which the cord is split longitudinally. Identification and diagnosis in adulthood is rare, with the majority of cases diagnosed in the paediatric population. Isolated segmental cervical SCM is rarer still. ⋯ The case serves to highlight the importance of knowledge of this rare congenital condition to surgeons, physicians and radiologists involved in the care of both adult and paediatric patients presenting with spinal pathology.
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Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients' quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients. ⋯ Our study shed further light on the relationship between genotype, dural pathology, and the overall clinical spectrum of MFS. The identification of protein-truncating variants and those impacting cysteine content may therefore suggest closer patient monitoring, in order to address potential complications associated with DE.