Proteus Syndrome: Report of a Case with Developmental Glaucoma
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patientwith Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledemaand myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma,macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma wasalso detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomysurgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusionsdevelopmental glaucoma and pseudopapilledema might be associated with Proteus syndrome.
Abstract
The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patientwith Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledemaand myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma,macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma wasalso detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomysurgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusionsdevelopmental glaucoma and pseudopapilledema might be associated with Proteus syndrome.
참고문헌 (14)
- Cohen MM Jr, "A newly recognized hamartomatous syndrome", Birth Defects Orig Artic Ser, 15, pp.291~296 (1979)
- Dietrich RB, "The Proteus syndrome: CNS manifestations", AJNR Am J Neuroradiol, 19, pp.987~990 (1998)
- ez-Lopez M, "Ocular manifestations in Proteus syndrome", Arch Soc Esp Oftalmol, 82, pp.175~178 (2007)
- Biesecker L, "The challenges of Proteus syndrome: diagnosis and management", Eur J Hum Genet, 14, pp.1151~1157 (2006)
- Gilbert-Barness E, "Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome", Am J Med Genet, 93, pp.234~240 (2000)
- Rizzo R, "Proteus syndrome: report of a case with severe brain impairment and fatal course", J Med Genet, 27, pp.399~402 (1990)
- Trivedi D, "Fibrous tumor of the superior oblique tendon in Proteus syndrome", J AAPOS, 17(4), pp.420~422 (2013)
- Sheard RM, "A novel ophthalmic presentation of the Proteus syndrome", Ophthalmology, 109, pp.1192~1195 (2002)
- Venugopalan P, "Proteus syndrome:a variant with eye involvement", Eye, 15(Pt 1), pp.116~118 (2001)
- De Becker I, "Ocular manifestations in Proteus syndrome", Am J Med Genet, 92, pp.350~352 (2000)
- Mayatepek E, "Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings", Am J Med Genet, 32, pp.402~406 (1989)
- Burke JP, "O’Doherty N. Proteus syndrome: ocular complications", J Pediatr Ophthalmol Strabismus, 25, pp.99~102 (1988)
- Viljoen DL, "Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals", Am J Med Genet, 27, pp.87~97 (1987)
- Bouzas EA, "Ophthalmologic examination in the diagnosis of Proteus syndrome", Ophthalmology, 100, pp.334~338 (1993)