Ann Rehabil Med.  2017 Oct;41(5):892-896. 10.5535/arm.2017.41.5.892.

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty

• Moon JG
• Shin MA
• Pyo H
• Choi SU
• Kim HK

• KMID: 2440819
• DOI: http://doi.org/10.5535/arm.2017.41.5.892

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.

Keyword

Sandhoff disease; Dysphagia; Nutritional status

MeSH Terms

Deglutition Disorders
Deglutition*
Eating
Female
Humans
Infant
Motor Skills
Noise
Nutritional Status
Paralysis
Posture
Reflex, Startle
Sandhoff Disease*
Seizures

Figure

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  Fig. 1 Brain magnetic resonance imaging scans at 15 months of age. On axial T2-weighted images, there are no high-intensity signals in bilateral thalami and basal ganglia.

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  Fig. 2 Physical examination findings. The patient had difficulty in raising her head, turning over, and crawling.

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  Fig. 3 Videofluoroscopic swallowing study findings. (A) No lip closure and lingual elevation in the oral phase. (B) Swallowing without aspiration in the pharyngeal phase.

Reference

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