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Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

ABSTRACT: A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated with pyrimethamine/sulfadiazine for 6 weeks due to evidence of active ocular inflammation and then received prophylaxis with trimethoprim-sulfamethoxazole due to his immunosuppression. Vision did not return; however, the infection did not spread to involve other sites. Toxoplasmosis is rare in primary immunodeficiency disorders and is the first protozoan infection reported in WHIM syndrome.

SUBMITTER: McDermott DH

PROVIDER: S-EPMC6587139 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

McDermott David H DH Heusinkveld Lauren E LE Zein Wadih M WM Sen H Nida HN Marquesen Martha M MM Parta Mark M Rosenzweig Sergio D SD Fahle Gary A GA Keller Michael D MD Wiley Henry E HE Murphy Philip M PM

F1000Research 20190102

A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. <i>Toxoplasma gondii</i> was detected by PCR in vitreous fluid but not serum. The patient was treated with pyrimethamine/sulfadiazine for 6 weeks due to evidence of active ocular inflammation and then received prophylaxis with trimethoprim-sulfamethoxazole due to his immunosuppression. Vision did not return; however, the infection did not spr ...[more]

PMID: 31249677

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