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https://www.um.edu.mt/library/oar/handle/123456789/46405
Title: | Case number 2 : GM1 gangliosidosis |
Authors: | Buhagiar, Ritianne Borg, Ayrton |
Keywords: | Gangliosidoses -- Case studies Gangliosidosis, GM1 Lysosomal storage diseases -- Diagnosis |
Issue Date: | 2015 |
Publisher: | Malta Medical Students' Association |
Citation: | Buhagiar, R., & Borg, A. (2015). Case number 2 : GM1 gangliosidosis. Minima Medicamenta, 4, 9-16. |
Abstract: | Mr. JB is a two-year-fourth-month old Caucasian boy from Xaghra. He is a known case of GM1 gangliosidosis. This child is a type 1, meaning early onset (presenting in the early months of life). The condition is characterised mainly by neurodegeneration and regression of achieving milestones, decreasing muscle activity and seizures. He was breastfed during his first year of life but he then started demonstrating oral feeding problems and began losing weight, necessitating nasogastric tube feeding. A soft silicone nasogastric tube was inserted in his right nostril, and requires changing every 6 weeks. This ensures adequate hydration and nutrition. He is now suffering from recurrent respiratory tract infections and was thus admitted for hospitalisation. Medications are also administered through the nasogastric tube in order to reduce the risk of aspiration pneumonia. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/46405 |
Appears in Collections: | Minima Medicamenta 2015 Minima Medicamenta 2015 |
Files in This Item:
File | Description | Size | Format | |
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Minima_Medicamenta,_2015_-_A2.pdf | 362.74 kB | Adobe PDF | View/Open |
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