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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...

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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
Descripción
Sumario: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.