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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
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