Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

Italian Journal of Pediatrics

Case Report

Andrea Ficari¹  Filippo Maria Panfili²  Giovanna Stefania Colafati³  Emanuele Agolini⁴  Alessandra Claudia Modugno⁵  Paola Valente⁶  Fabiana Cortellessa⁷  Marina Macchiaiolo⁷  Michaela Veronika Gonfiantini⁷  Paola Sabrina Buonuomo⁷  Davide Vecchio⁷  Maria Bartuli⁸ 

[1] Academic Department of Pediatrics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Academic Department of Pediatrics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Rare Diseases and Medical Genetics Unit, Bambino Gesù Children’s Hospital, IRCCS, Pediatric Department, Piazza Di Sant’Onofrio, 4, 00165, Rome, Italy;Department of Imaging, Neuroradiology Unit, IRCCS Bambino Gesù Children’s Hospital, Rome, Italy;Laboratory of Medical Genetics Translational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Ocularistica Italiana, Rome, Italy;Ophthalmology Department, Bambino Gesù Children’s Hospital, IRCCS Pediatric Hospital, Rome, Italy;Rare Diseases and Medical Genetics Unit, Bambino Gesù Children’s Hospital, IRCCS, Pediatric Department, Piazza Di Sant’Onofrio, 4, 00165, Rome, Italy;University of Rome “La Sapienza”, Rome, Italy;

关键词: Plasminogen deficiency;    Case report;    Topical plasminogen;    Ligneous conjunctivitis;    Ocular prosthesis;   

DOI  :  10.1186/s13052-023-01503-x

 received in 2023-05-03, accepted in 2023-07-25,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundLigneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it is characterized by the formation of pseudomembranes (due to deposition of fibrin) on the conjunctivae leading to progressive vision loss.In past times, patients with LC were treated with surgery, topical anti-inflammatory, cytostatic agents, and systemic immunosuppressive drugs with limited results (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022, Surv Ophthalmol 48:369-388, 2003, Blood 131:1301-1310, 2018). The surgery can also trigger the development of membranes, as observed in patients needing ocular prosthesis (Surv Ophthalmol 48:369-388, 2003). Treatment with topical purified plasminogen is used to prevent pseudomembranes formation (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022).Case presentationWe present the case of a sixteen-year-old girl with LC with severe left eye involvement. We reported the clinical conditions of the patient before and after the use of topical plasminogen eye drops and described the treatment schedule allowing the surgical procedure for the pseudomembranes debulking and the subsequent use of ocular prosthesis for aesthetic rehabilitation.ConclusionsThe patient showed a progressive response to the topical plasminogen, with a complete absence of pseudomembrane formation at a twelve-year follow-up, despite using an ocular prosthesis.

【 授权许可】

CC BY   
© Società Italiana di Pediatria 2023

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