Jenelle Raynowska1, Dhanashri P Miskin1, Bidyut Pramanik1, Saeed Asiry1, Todd Anderson1, John Boockvar1, Souhel Najjar1, Asaff Harel2. 1. From the Department of Internal Medicine (J.R.), Division of Neuro-Immunology, Department of Neurology (D.P.M., A.H.), Division of Neuroradiology, Department of Radiology (B.P.), Division of Neuropathology, Department of Pathology (S.A., T.A.), Department of Neurosurgery (J.B.), and Department of Neurology (S.N.), Lenox Hill Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New York, NY. 2. From the Department of Internal Medicine (J.R.), Division of Neuro-Immunology, Department of Neurology (D.P.M., A.H.), Division of Neuroradiology, Department of Radiology (B.P.), Division of Neuropathology, Department of Pathology (S.A., T.A.), Department of Neurosurgery (J.B.), and Department of Neurology (S.N.), Lenox Hill Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New York, NY. asaffh@gmail.com.
Abstract
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.
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.
Authors: E S Hoogeveen; N Pelzer; I de Boer; M A van Buchem; G M Terwindt; M C Kruit Journal: AJNR Am J Neuroradiol Date: 2021-06-24 Impact factor: 4.966