Diagnosing Retinal Vasculopathy With Cerebral Leukoencephalopathy: Case Report

CT brain calcification
CT brain calcification
Investigators reviewed a case study of 2 brothers with retinal vasculopathy with cerebral leukoencephalopathy to learn more about this rare disease.

In a case study of 2 brothers with retinal vasculopathy with cerebral leukoencephalopathy (RVCL), the presence of nonspecific brain calcifications, liver disease, retinal vasculopathy, and tumefactive brain lesions were the key factors that led to an accurate RVCL diagnosis. The researchers of the study, published in Neurology, suggested these findings may help reduce unnecessary invasive interventions, particularly as the disease causes brain lesions that mimic tumefactive multiple sclerosis (MS) and gliomas.

A male patient, 58 years old, presented with acute-onset generalized seizure and confusion along with a history of progressive gait disturbance and cognitive decline. His brother, 61 years old, presented with a history of psoriasis, bilateral cataracts, recently diagnosed fatty liver disease, relatively recent gait disturbance, urinary incontinence, and increased somnolence. Investigators performed non–contrast-enhanced brain magnetic resonance imaging (MRI), which revealed dominant nonspecific calcifications and a dominant right frontal hypodense lesion in the 58-year-old patient whereas contrast-enhanced brain MRI in the 61-year-old patient demonstrated a large ring-enhancing right frontal lesion with edema and mass effect.

The investigators identified T2-hyperintense lesions, nonspecific brain calcifications, and ophthalmic and liver disease of unclear etiology. One of the brothers was unsuccessfully treated for tumefactive MS. Evaluation of the brothers’ family history revealed that their father had a tumefactive brain lesion and was subsequently diagnosed with central nervous system vasculitis. After the revelation of the familial history data, clinicians performed a genetic analysis. Diagnosis of RVCL was confirmed after identification of a TREX1 (3-prime repair exonuclease 1) C-terminal mutation.

Findings from this study were specific to the 2 brothers and may not be applicable to patients presenting with similar symptoms.

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“RVCL is an underrecognized and rare disorder that presents with a constellation of symptoms that may mimic other more common conditions such as MS,” the case study researchers wrote. “The 2 cases presented highlight the importance of recognition of RVCL to prevent unnecessary invasive procedures and ineffective potentially harmful treatments, and to allow for proper counseling of family members.”


Raynowska J, Miskin DP, Pramanik B, et al. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): a rare mimic of tumefactive MS. Neurology. 2018;91:e1423-e1428.