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Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
BACKGROUND: Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460740/ https://www.ncbi.nlm.nih.gov/pubmed/32867703 http://dx.doi.org/10.1186/s12886-020-01628-1 |
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author | Rossi, Settimio Gesualdo, Carlo Tartaglione, Antonio Bilo, Leonilda Coppola, Antonietta Simonelli, Francesca |
author_facet | Rossi, Settimio Gesualdo, Carlo Tartaglione, Antonio Bilo, Leonilda Coppola, Antonietta Simonelli, Francesca |
author_sort | Rossi, Settimio |
collection | PubMed |
description | BACKGROUND: Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis is the finding of a macular cherry-red spot on ocular fundus examination. In this paper we describe a unilateral case of Bergmeister’s papilla (BP) in a young female patient suffering from type 1 sialidosis. CASE PRESENTATION: A 28-year-old young woman suffering from type 1 sialidosis, confirmed by previously described compound heterozigosity Leu91Arg and Gly328Ser on N-acetyl-alpha-neuraminidase − 1 (NEU1) gene, underwent an opthalmological examination at the Eye Clinic of the University of Campania L. Vanvitelli, for bilateral visual deterioration. The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disability. Fundoscopic examination showed a typical macular cherry-red spot with retinal pigment epithelium dystrophy in the middle periphery, in both eyes. Furthermore, in the left eye (OS), a vitreous thickening was observed in the nasal sector of the optic disc, remnant of fetal vasculature on the optic disc (Bergmeister’s papilla). Optical coherence tomography (OCT) showed, in both eyes, a thickening of the ganglion cell layer (GCL) with a hyperreflective opacity as a cap on the left optic disc. CONCLUSIONS: In our paper we have described, for the first time in literature, a case of BP in a patient with type 1 sialidosis. The detection of BP with thickening of the peripapillary vitreous by SD-OCT is useful in monitoring any vitreo-retinal change that could cause future visual deterioration. |
format | Online Article Text |
id | pubmed-7460740 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-74607402020-09-02 Bergmeister’s papilla in a young patient with type 1 sialidosis: case report Rossi, Settimio Gesualdo, Carlo Tartaglione, Antonio Bilo, Leonilda Coppola, Antonietta Simonelli, Francesca BMC Ophthalmol Case Report BACKGROUND: Sialidosis is a rare genetic lysosomal storage disorder caused by a deficit of neuraminidase enzyme activity. Patients with sialidosis present various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment. A typical aspect of sialidosis is the finding of a macular cherry-red spot on ocular fundus examination. In this paper we describe a unilateral case of Bergmeister’s papilla (BP) in a young female patient suffering from type 1 sialidosis. CASE PRESENTATION: A 28-year-old young woman suffering from type 1 sialidosis, confirmed by previously described compound heterozigosity Leu91Arg and Gly328Ser on N-acetyl-alpha-neuraminidase − 1 (NEU1) gene, underwent an opthalmological examination at the Eye Clinic of the University of Campania L. Vanvitelli, for bilateral visual deterioration. The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disability. Fundoscopic examination showed a typical macular cherry-red spot with retinal pigment epithelium dystrophy in the middle periphery, in both eyes. Furthermore, in the left eye (OS), a vitreous thickening was observed in the nasal sector of the optic disc, remnant of fetal vasculature on the optic disc (Bergmeister’s papilla). Optical coherence tomography (OCT) showed, in both eyes, a thickening of the ganglion cell layer (GCL) with a hyperreflective opacity as a cap on the left optic disc. CONCLUSIONS: In our paper we have described, for the first time in literature, a case of BP in a patient with type 1 sialidosis. The detection of BP with thickening of the peripapillary vitreous by SD-OCT is useful in monitoring any vitreo-retinal change that could cause future visual deterioration. BioMed Central 2020-08-31 /pmc/articles/PMC7460740/ /pubmed/32867703 http://dx.doi.org/10.1186/s12886-020-01628-1 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Rossi, Settimio Gesualdo, Carlo Tartaglione, Antonio Bilo, Leonilda Coppola, Antonietta Simonelli, Francesca Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title | Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title_full | Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title_fullStr | Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title_full_unstemmed | Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title_short | Bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
title_sort | bergmeister’s papilla in a young patient with type 1 sialidosis: case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460740/ https://www.ncbi.nlm.nih.gov/pubmed/32867703 http://dx.doi.org/10.1186/s12886-020-01628-1 |
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