Septo-optic dysplasia in an infant

Radiology Case Reports

article

Ermira Aliu¹  Juna Musa¹  Anusha Parisapogu¹  Erisa Kola¹  Fjolla Hyseni¹  Ina Kola¹  Alejandro Obando Blandón¹  Pooja Roy¹  Kampa Prathima¹  Chandalji Naik Banavath¹  Pooja Kumbha¹  Shaik Mashood Tappa¹  Jasmine Saini¹  Srikrishnan Pichuthirumalai¹  Ilir Ahmetgjekaj¹ 

[1] Women's Center for Radiology

关键词: SOD;    Congenital malformations;    Optic nerve hypoplasia;    Hypopituitarism;   

DOI  :  10.1016/j.radcr.2022.06.002

学科分类：生物化学工程

来源: University of Washington * Department of Radiology

【 摘 要 】

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.

【 授权许可】

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