Cargando…
Septo-optic dysplasia in an infant
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypop...
Autores principales: | , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253040/ https://www.ncbi.nlm.nih.gov/pubmed/35801123 http://dx.doi.org/10.1016/j.radcr.2022.06.002 |
_version_ | 1784740407279616000 |
---|---|
author | Aliu, Ermira Musa, Juna Parisapogu, Anusha Kola, Erisa Hyseni, Fjolla Kola, Ina Blandón, Alejandro Obando Roy, Pooja Prathima, Kampa Banavath, Chandalji Naik Kumbha, Pooja Tappa, Shaik Mashood Saini, Jasmine Pichuthirumalai, Srikrishnan Ahmetgjekaj, Ilir |
author_facet | Aliu, Ermira Musa, Juna Parisapogu, Anusha Kola, Erisa Hyseni, Fjolla Kola, Ina Blandón, Alejandro Obando Roy, Pooja Prathima, Kampa Banavath, Chandalji Naik Kumbha, Pooja Tappa, Shaik Mashood Saini, Jasmine Pichuthirumalai, Srikrishnan Ahmetgjekaj, Ilir |
author_sort | Aliu, Ermira |
collection | PubMed |
description | Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach. |
format | Online Article Text |
id | pubmed-9253040 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-92530402022-07-06 Septo-optic dysplasia in an infant Aliu, Ermira Musa, Juna Parisapogu, Anusha Kola, Erisa Hyseni, Fjolla Kola, Ina Blandón, Alejandro Obando Roy, Pooja Prathima, Kampa Banavath, Chandalji Naik Kumbha, Pooja Tappa, Shaik Mashood Saini, Jasmine Pichuthirumalai, Srikrishnan Ahmetgjekaj, Ilir Radiol Case Rep Case Report Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach. Elsevier 2022-06-26 /pmc/articles/PMC9253040/ /pubmed/35801123 http://dx.doi.org/10.1016/j.radcr.2022.06.002 Text en © 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Aliu, Ermira Musa, Juna Parisapogu, Anusha Kola, Erisa Hyseni, Fjolla Kola, Ina Blandón, Alejandro Obando Roy, Pooja Prathima, Kampa Banavath, Chandalji Naik Kumbha, Pooja Tappa, Shaik Mashood Saini, Jasmine Pichuthirumalai, Srikrishnan Ahmetgjekaj, Ilir Septo-optic dysplasia in an infant |
title | Septo-optic dysplasia in an infant |
title_full | Septo-optic dysplasia in an infant |
title_fullStr | Septo-optic dysplasia in an infant |
title_full_unstemmed | Septo-optic dysplasia in an infant |
title_short | Septo-optic dysplasia in an infant |
title_sort | septo-optic dysplasia in an infant |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253040/ https://www.ncbi.nlm.nih.gov/pubmed/35801123 http://dx.doi.org/10.1016/j.radcr.2022.06.002 |
work_keys_str_mv | AT aliuermira septoopticdysplasiainaninfant AT musajuna septoopticdysplasiainaninfant AT parisapoguanusha septoopticdysplasiainaninfant AT kolaerisa septoopticdysplasiainaninfant AT hysenifjolla septoopticdysplasiainaninfant AT kolaina septoopticdysplasiainaninfant AT blandonalejandroobando septoopticdysplasiainaninfant AT roypooja septoopticdysplasiainaninfant AT prathimakampa septoopticdysplasiainaninfant AT banavathchandaljinaik septoopticdysplasiainaninfant AT kumbhapooja septoopticdysplasiainaninfant AT tappashaikmashood septoopticdysplasiainaninfant AT sainijasmine septoopticdysplasiainaninfant AT pichuthirumalaisrikrishnan septoopticdysplasiainaninfant AT ahmetgjekajilir septoopticdysplasiainaninfant |