An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.
10.5535/arm.2017.41.5.892
- Author:
Jae Gun MOON
1
;
Min A SHIN
;
Hannah PYO
;
Seong Uk CHOI
;
Hyun Kyung KIM
Author Information
1. Department of Rehabilitation Medicine, National Rehabilitation Center, Seoul, Korea. fbkhk@hanmail.net
- Publication Type:Case Report
- Keywords:
Sandhoff disease;
Dysphagia;
Nutritional status
- MeSH:
Deglutition Disorders;
Deglutition*;
Eating;
Female;
Humans;
Infant;
Motor Skills;
Noise;
Nutritional Status;
Paralysis;
Posture;
Reflex, Startle;
Sandhoff Disease*;
Seizures
- From:Annals of Rehabilitation Medicine
2017;41(5):892-896
- CountryRepublic of Korea
- Language:English
-
Abstract:
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 Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture. Within 3 months of identification of difficulty in swallowing, the patient showed a significant decrease in food intake, with rapid deterioration of nutritional status. We report our case with a review of the literature.
