EVOLUTION OF A TUMOR-LIKE LESION IN CEREBRORETINAL VASCULOPATHY AND TREX1 MUTATION

Abstract

Cerebroretinal vasculopathy (CRV) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and retina due to frameshift mutations in the gene TREX1 .1,2 Patients present with vision loss, seizures, hemiparesis, apraxia, dysarthria, or memory loss. There is progression to blindness, a neurovegetative state, and death within 5 to 10 years.1 MRI reveals a tumor-like lesion in approximately half of patients, resembling a primary brain malignancy, while in the other half there are multiple small white matter lesions which may be misdiagnosed as demyelinating disease. The purpose of this report is to heighten awareness of this disease and to note near resolution of the tumor-like lesion. ### Case report. A 44-year-old woman had daily tension-type headaches and chronic sinusitis since 2006. In June 2007, she had transient right nasal visual field blurring. Visual acuity remained intact. Neurologic examination had normal results. In 2007, a multi-kindred study2 identified the causative mutation of CRV as frameshifts in the C-terminus of the TREX1 gene. The patient was found to carry the V235fs mutation (3688_3689insG). Her father, paternal grandmother, and extended kindred had CRV (n = 27, 4 with active disease, 23 died due to CRV, major family in reference 1). At the age of 43, her father presented with hemiparesis and a tumor-like lesion. He died of progressive disease complicated by steroid-associated bleeding from gastrointestinal ulcers at age 49. Her paternal grandmother had a brain lesion resected, believed to worsen after radiation, and died in …