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- Title
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.
- 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.
- Subjects
LIPID analysis; RETINAL detachment; DIFFERENTIAL diagnosis; LEG; BLOOD testing; SENSORINEURAL hearing loss; CYSTITIS; BRAIN; RARE diseases; SYMPTOMS; MAGNETIC resonance imaging; PRENATAL diagnosis; MUSCLE weakness; GENE expression; AGENESIS of corpus callosum; CRANIOFACIAL abnormalities; FAMILIAL spastic paraplegia; CRANIOFACIAL dysostosis; GENETIC mutation; MULTIPLE human abnormalities; GENETIC testing; LIVER function tests; AMYLOID beta-protein precursor; SEQUENCE analysis; ADOLESCENCE
- Publication
Annals of Indian Academy of Neurology, 2024, Vol 27, Issue 4, p441
- ISSN
0972-2327
- Publication type
Article
- DOI
10.4103/aian.aian_962_23