Bilateral maculopathy in a patient with ataxia telangiectasia

J AAPOS. 2016 Feb;20(1):85-8. doi: 10.1016/j.jaapos.2015.10.005.

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.

Publication types

  • Case Reports

MeSH terms

  • Anti-Infective Agents / therapeutic use
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / drug therapy
  • Ataxia Telangiectasia / parasitology
  • Cerebrospinal Fluid / parasitology
  • Child
  • Conjunctival Diseases / diagnosis*
  • Conjunctival Diseases / drug therapy
  • Conjunctival Diseases / parasitology
  • Eye Infections, Parasitic / diagnosis*
  • Eye Infections, Parasitic / drug therapy
  • Eye Infections, Parasitic / parasitology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Polymerase Chain Reaction
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / drug therapy
  • Retinal Diseases / parasitology
  • Tomography, Optical Coherence
  • Toxoplasma / isolation & purification
  • Toxoplasmosis, Ocular / diagnosis*
  • Toxoplasmosis, Ocular / drug therapy
  • Toxoplasmosis, Ocular / parasitology
  • Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use

Substances

  • Anti-Infective Agents
  • Trimethoprim, Sulfamethoxazole Drug Combination