An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty
Annals of Rehabilitation Medicine
;
: 892-896, 2017.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Parálisis
/
Postura
/
Enfermedad de Sandhoff
/
Convulsiones
/
Reflejo de Sobresalto
/
Trastornos de Deglución
/
Estado Nutricional
/
Deglución
/
Ingestión de Alimentos
/
Destreza Motora
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Inglés
Revista:
Annals of Rehabilitation Medicine
Año:
2017
Tipo del documento:
Artículo
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