An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
Annals of Rehabilitation Medicine
;
: 892-896, 2017.
Article
in English
| WPRIM
| ID: wpr-60200
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Paralysis
/
Posture
/
Sandhoff Disease
/
Seizures
/
Reflex, Startle
/
Deglutition Disorders
/
Nutritional Status
/
Deglutition
/
Eating
/
Motor Skills
Limits:
Female
/
Humans
/
Infant
Language:
English
Journal:
Annals of Rehabilitation Medicine
Year:
2017
Type:
Article
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