Back to Search Start Over

Developmental Delay and Epilepsy Without Gigantism: An Unusual Presentation of Soto's Syndrome Due to A Novel Mutation in the NSD1 Gene.

Authors :
Panda, Prateek Kumar
Nandani, Radhika
Mehta, Sonalika
Sharawat, Indar Kumar
Source :
Annals of Indian Academy of Neurology. Jan/Feb2022, Vol. 25 Issue 1, p152-153. 2p.
Publication Year :
2022

Abstract

A case study of a 2‑year‑old girl presented with developmental delay and epilepsy without gigantism, and seizures for 3 months of age of Soto's Syndrome. Topics include delay in attainment of language, and social milestones, as compared to gross and fine motor milestones; and magnetic resonance imaging of the brain was normal, and electroencephalogram showed frequent bilateral frontotemporal epileptiform discharges.

Details

Language :
English
ISSN :
09722327
Volume :
25
Issue :
1
Database :
Academic Search Index
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Academic Journal
Accession number :
155386926
Full Text :
https://doi.org/10.4103/aian.AIAN_209_21