title: A rare case of primary congenital glaucoma in combination with neurofibromatosis 1: a case report.
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.
  
  
  METHODS
  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.
authors.affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. lihaijun2013238@sina.com.
authors.forename: Haijun
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. tingliu1579@126.com.
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. 191543491@qq.com.
authors.forename: Xia
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Daping Hospital & Research Institute of Surgery, Third Military Medical University, Changjiang Branch Road, Chongqing, 400042, China. xielin793@gmail.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Xie
mesh_terms: D000477:Alkylating Agents / Q000008:administration & dosage; D001932:Brain Neoplasms / Q000175:diagnosis; D003131:Combined Modality Therapy; D005910:Glioma / Q000175:diagnosis; D006801:Humans; D006871:Hydrophthalmos / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D007223:Infant; D007429:Intraocular Pressure; D008279:Magnetic Resonance Imaging; D008297:Male; D016685:Mitomycin / Q000008:administration & dosage; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D014065:Tonometry, Ocular; D014130:Trabeculectomy
chemical_list: D000477:Alkylating Agents; D016685:Mitomycin