title: Bilateral maculopathy in a patient with ataxia telangiectasia.
abstract: We report a case of toxoplasmosis with bilateral maculopathy in a 7-year-old boy diagnosed with ataxia telangiectasia (AT) at age 6. AT manifests as ataxia, apraxia, telangiectasia, and dysarthria. Common ophthalmologic findings in AT include fine conjunctival telangiectasia. Patients also suffer from recurrent sinopulmonary infections; however, serious opportunistic infection is rarely diagnosed. At 8 years of age he developed disseminated Toxoplasma gondii (toxoplasmosis) infection and meningoencephalitis. This ophthalmologic finding and the subsequent toxoplasmosis meningoencephalitis have not been previously reported in AT.
authors.affiliation: WVU School of Medicine, Morgantown, West Virginia. Electronic address: lgioia@mix.wvu.edu.
authors.forename: Lauren V
authors.initials: LV
authors.lastname: Gioia
authors.affiliation: WVU Eye Institute, Morgantown, West Virginia.
authors.forename: Dean
authors.initials: D
authors.lastname: Bonsall
authors.affiliation: WVU Pediatrics and WVU Infectious Diseases, Morgantown, West Virginia.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Moffett
authors.affiliation: WVU Eye Institute, Morgantown, West Virginia.
authors.forename: Monique
authors.initials: M
authors.lastname: Leys
mesh_terms: D000890:Anti-Infective Agents / Q000627:therapeutic use; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000188:drug therapy / Q000469:parasitology; D002555:Cerebrospinal Fluid / Q000469:parasitology; D002648:Child; D003229:Conjunctival Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000469:parasitology; D015822:Eye Infections, Parasitic / Q000175:diagnosis* / Q000188:drug therapy / Q000469:parasitology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000469:parasitology; D041623:Tomography, Optical Coherence; D014122:Toxoplasma / Q000302:isolation & purification; D014126:Toxoplasmosis, Ocular / Q000175:diagnosis* / Q000188:drug therapy / Q000469:parasitology; D015662:Trimethoprim, Sulfamethoxazole Drug Combination / Q000627:therapeutic use
chemical_list: D000890:Anti-Infective Agents; D015662:Trimethoprim, Sulfamethoxazole Drug Combination