An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
Annals of Rehabilitation Medicine
; : 892-896, 2017.
Article
de En
| WPRIM
| ID: wpr-60200
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Paralysie
/
Posture
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Maladie de Sandhoff
/
Crises épileptiques
/
Réflexe de sursaut
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Troubles de la déglutition
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État nutritionnel
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Déglutition
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Consommation alimentaire
/
Aptitudes motrices
Limites du sujet:
Female
/
Humans
/
Infant
langue:
En
Texte intégral:
Annals of Rehabilitation Medicine
Année:
2017
Type:
Article