An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty

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.

Improved Gait Speed After Robot-Assisted Gait Training in Patients With Motor Incomplete Spinal Cord Injury: A Preliminary Study

OBJECTIVE: To evaluate the clinical features that could serve as predictive factors for improvement in gait speed after robotic treatment. METHODS: A total of 29 patients with motor incomplete spinal cord injury received 4-week robot-assisted gait training (RAGT) on the Lokomat (Hocoma AG, Volketswil, Switzerland) for 30 minutes, once a day, 5 times a week, for a total of 20 sessions. All subjects were evaluated for general characteristics, the 10-Meter Walk Test (10MWT), the Lower Extremity Motor Score (LEMS), the Functional Ambulatory Category (FAC), the Walking Index for Spinal Cord Injury version II (WISCI-II), the Berg Balance Scale (BBS), and the Spinal Cord Independence Measure version III (SCIM-III) every 0, and 4 weeks. After all the interventions, subjects were stratified using the 10MWT score at 4 weeks into improved group and non-improved group for statistical analysis. RESULTS: The improved group had younger age and shorter disease duration than the non-improved group. All subjects with the American Spinal Injury Association Impairment Scale level C (AIS-C) tetraplegia belonged to the non-improved group, while most subjects with AIS-C paraplegia, AIS-D tetraplegia, and AIS-D paraplegia belonged to the improved group. The improved group showed greater baseline lower extremity strength, balance, and daily living function than the non-improved group. CONCLUSION: Assessment of SCIM-III, BBS, and trunk control, in addition to LEMS, have potential for predicting the effects of robotic treatment in patients with motor incomplete spinal cord injury.