| Autor: |
Ermira Aliu, MD, Juna Musa, MD, MSc, Anusha Parisapogu, MBBS, Erisa Kola, MD, Fjolla Hyseni, MD, Ina Kola, MD, Alejandro Obando Blandón, MD, Pooja Roy, MD, Kampa Prathima, MD, Chandalji Naik Banavath, MD, Pooja Kumbha, MD, Shaik Mashood Tappa, MD, Jasmine Saini, MD, Srikrishnan Pichuthirumalai, MD, Ilir Ahmetgjekaj, Assoc. Prof. Dr |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 17, Iss 9, Pp 3147-3150 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2022.06.002 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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