Title |
Chronic granulomatous disease presenting as retinal mass
|
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Published in |
Cases Journal, October 2008
|
DOI | 10.1186/1757-1626-1-257 |
Pubmed ID | |
Authors |
Ahmad M Mansour, Mays Al Dairy, Rola Hamam, Ahmed A Hidayat |
Abstract |
1-year-old girl was admitted for fever of unknown origin. Funduscopy revealed juxtapapillary retinal inflammatory mass in one eye with a differential diagnosis of sarcoidosis, tuberculosis, retinoblastoma or metastatic disease. Retinal biopsy showed necrotizing granulomatous retinitis. Extensive workup and therapeutic trials failed to confirm the diagnosis of tuberculosis or sarcoidosis. Her 7-month brother and 4-year-old male cousin presented with nystagmus, poor vision, paravascular pigmentary changes and were initially diagnosed as recessive retinal dystrophy. The girl died at age 2 from tuberculous meningitis and the boys had recurrent tuberculous and Aspergillus infections. Awareness of the typical fundus findings in chronic granulomatous disease allows early diagnosis of the disorder. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 178 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 2 | 1% |
Other | 2 | 1% |
Student > Master | 1 | <1% |
Unknown | 173 | 97% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 3 | 2% |
Social Sciences | 1 | <1% |
Unknown | 174 | 98% |