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BMC Ophthalmol. 2015 Oct 29;15:149. doi: 10.1186/s12886-015-0142-8.

A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report.

Author information

1
Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. lihaijun2013238@sina.com.
2
Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. tingliu1579@126.com.
3
Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. 191543491@qq.com.
4
Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. xielin793@gmail.com.

Abstract

BACKGROUND:

Neurofibromatosis 1 (NF1) is a common disease that mainly affects the skin and peripheral nervous system, and is characterized by bony dysplasia. Primary congenital glaucoma (PCG) is a sight-threatening disease that can manifest as a prodrome of NF1, especially in newborn babies. We report a case of PCG with NF 1.

CASE PRESENTATION:

A 1-month-old boy presented with an enlarged right eyeball. An increased IOP and typical glaucomatous optic neuropathy were found, on the initial physical examination, a clinical diagnosis of primary congenital glaucoma (PCG) was made and a trabeculectomy with mitomycin C (MMC) therapy was subsequently performed. Three year later, the boy again presented with an even larger right eye and a gradually expanding left one. In addition to typical glaucomatous optic neuropathy, the boy also had multiple café au lait patches all over his body, megacephaly (head circumference = 60 cm; body weight = 14 kg; height = 93 cm) and remarkable facial features included swollen, soft upper eyelids and a flat, broad nose sphenoid wing dysplasia, eyelid thickening, bony orbit enlargement were found.

CONCLUSIONS:

It is rare have both PCG and NF1, and PCG may be a prelude to NF1. Continuous follow-up should be advised and we should raise our awareness of the combined condition and to improve chances for an early diagnosis.

PMID:
26514695
PMCID:
PMC4625924
DOI:
10.1186/s12886-015-0142-8
[Indexed for MEDLINE]
Free PMC Article

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