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Spastic Paraparesis in Donnai--Barrow Syndrome: A Rare Case Report from India.

Authors :
Parida, Swati
Kumar, Nikhil A.
Chaurasia, Rameshwar N.
Kumar, Anand
Pathak, Abhishek
Singh, Varun K.
Source :
Annals of Indian Academy of Neurology. Jul/Aug2024, Vol. 27 Issue 4, p441-443. 3p.
Publication Year :
2024

Abstract

The article focuses on a rare case of Donnai–Barrow syndrome (DBS) presenting with spastic paraparesis, a feature not previously documented in the literature. Topics include the unique neurological manifestation of spastic paraparesis in DBS, the importance of reporting atypical symptoms for early diagnosis and genetic counseling, and the use of whole exome sequencing to confirm the diagnosis.

Details

Language :
English
ISSN :
09722327
Volume :
27
Issue :
4
Database :
Academic Search Index
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Academic Journal
Accession number :
179544181
Full Text :
https://doi.org/10.4103/aian.aian_962_23