Septo-optic dysplasia plus syndrome in a 2-year-old child: A case report.
MRI
Schizencephaly
Septo-optic dysplasia
Septum pellucidum
Journal
Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888
Informations de publication
Date de publication:
Sep 2024
Sep 2024
Historique:
received:
24
05
2024
accepted:
28
05
2024
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
23
7
2024
Statut:
epublish
Résumé
Septo-optic dysplasia (SOD) is a rare congenital condition characterized by a triad of septum pellucidum dysgenesis, optic nerve hypoplasia, and hypothalamic-hypophyseal dysfunction. In some cases, additional brain anomalies such as schizencephaly can occur, leading to a more complex presentation known as septo-optic dysplasia plus (SOD+). This case report describes a 2-year-old boy presenting with delayed psychomotor development and visual impairment, ultimately diagnosed with SOD+.
Identifiants
pubmed: 39040836
doi: 10.1016/j.radcr.2024.05.090
pii: S1930-0433(24)00487-4
pmc: PMC11261262
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
3878-3881Informations de copyright
© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.