MRI brain and lumbar puncture were supportive of a diagnosis of intracranial hypertension. MRI brain additionally showed nonenhancing cystic lesions in the pterygopalatine fossa, and MRI spine showed multiple meningeal diverticula and sacral perineural cysts, all of which can be seen in dural ectasia. Genetic workup for causes of dural ectasia, including neurofibromatosis, Marfan syndrome, and Ehlers Danlos was negative. She was found to have a mutation the CRTAP gene and a variant of uncertain significance in the COL5A2 gene, both of which can be associated with connective tissue disorders.

This patient appears to have an underlying connective tissue disorder, possibly from a genetic variant of the CRTAP gene or COL5A2 gene, that changed the compliance of her dura, altering her volume/pressure gradient and resulting in intracranial hypertension. The association with the CRTAP and COL5A2 genes and dural ectasia have not been previously described in the literature. The case describes the relationship between dural compliance in intracranial pressure, in addition to describing new gene variants that could possibly explain findings.