Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS

Publication Date

2018

Journal Title

Neurology

Abstract

© 2018 American Academy of Neurology. OBJECTIVE: We report a series of 2 brothers who each developed tumefactive brain lesions, initially thought to have brain tumors or tumefactive multiple sclerosis (MS), but who were ultimately diagnosed with a rare autosomal dominant condition known as retinal vasculopathy with cerebral leukoencephalopathy (RVCL).METHODS: Case series and literature review.RESULTS: We present 2 brothers who developed tumefactive right frontal brain lesions leading to gait disturbances and cognitive changes. Both brothers also had nonspecific brain calcifications and T2-hyperintense lesions, and both had ophthalmic and liver disease of unclear etiology. The first brother had been extensively evaluated by various specialists, underwent inconclusive brain and liver biopsies, and was ultimately unsuccessfully treated for a diagnosis of tumefactive MS. The second brother also underwent unrevealing evaluation with CSF analysis and brain biopsy. Further family history revealed that the patients' father developed a tumefactive brain lesion in the 1980s and had been diagnosed with CNS vasculitis. Given the familial link, RVCL was suspected, and genetic analysis confirmed the diagnosis with a 3-prime repair exonuclease 1 (TREX1) C-terminal mutation.CONCLUSION: The presence of tumefactive brain lesions, nonspecific brain calcifications, liver disease, and retinal vasculopathy, coupled with suggestive family history, led to the RVCL diagnosis. This report contributes to the limited understanding of RVCL, which can cause brain lesions that mimic gliomas or tumefactive MS. Recognition of this entity may prevent unnecessary invasive procedures and inappropriate therapeutic interventions, and would allow for proper counseling of family members.

Volume Number

91

Issue Number

15

Pages

e1423 - e1428

Document Type

Article

Status

Faculty, Northwell Resident

Facility

School of Medicine; Northwell Health

Primary Department

Neurology

Additional Departments

Neurosurgery; Otolaryngology; Pathology and Laboratory Medicine; Radiology

PMID

30194247

DOI

10.1212/WNL.0000000000006329

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