An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty

Infants with Sandhoff disease typically appear normal until 3–6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with...

Descripción completa

Detalles Bibliográficos
Autores principales: Moon, Jae-Gun, Shin, Min-A, Pyo, Hannah, Choi, Seong-Uk, Kim, Hyun-Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698679/
https://www.ncbi.nlm.nih.gov/pubmed/29201831
http://dx.doi.org/10.5535/arm.2017.41.5.892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698679/
https://www.ncbi.nlm.nih.gov/pubmed/29201831
http://dx.doi.org/10.5535/arm.2017.41.5.892

Ejemplares similares