title: A 44-year-old man with eye, kidney, and brain dysfunction.
abstract: Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX1 (3-prime repair exonuclease-1). The phenotypic expressions range from isolated retinal involvement to varying degrees of retinopathy, cerebral infarction with calcium depositions, nephropathy, and hepatopathy. We report a case of RVCL caused by a novel TREX1 mutation. This patient's multisystem presentation, retinal involvement interpreted as "retinal vasculitis," and improvement of neuroimaging abnormalities with dexamethasone led to the accepted diagnosis of a rheumatologic disorder resembling Behçet disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy.
authors.affiliation: Harvard Medical School, Boston, MA.|Department of Neurology, Massachusetts General Hospital, Boston, MA.
authors.forename: Ivana
authors.initials: I
authors.lastname: Vodopivec
authors.affiliation: Harvard Medical School, Boston, MA.|Department of Pathology (Neuropathology), Massachusetts General Hospital, Boston, MA.
authors.forename: Derek H
authors.initials: DH
authors.lastname: Oakley
authors.affiliation: Harvard Medical School, Boston, MA.|Rheumatology Unit, Massachusetts General Hospital, Boston, MA.
authors.forename: Cory A
authors.initials: CA
authors.lastname: Perugino
authors.affiliation: Harvard Medical School, Boston, MA.|Department of Neurology, Massachusetts General Hospital, Boston, MA.
authors.forename: Nagagopal
authors.initials: N
authors.lastname: Venna
authors.affiliation: Harvard Medical School, Boston, MA.|Department of Pathology (Neuropathology), Massachusetts General Hospital, Boston, MA.
authors.forename: E Tessa
authors.initials: ET
authors.lastname: Hedley-Whyte
authors.affiliation: Harvard Medical School, Boston, MA.|Rheumatology Unit, Massachusetts General Hospital, Boston, MA.
authors.forename: John H
authors.initials: JH
authors.lastname: Stone
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000175:diagnosis / Q000235:genetics; D005090:Exodeoxyribonucleases / Q000235:genetics*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010750:Phosphoproteins / Q000235:genetics*; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis* / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D014652:Vascular Diseases / Q000175:diagnosis* / Q000235:genetics
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1