| Autor: |
Baltov, M., Bivolarski, I., Mihaylova, V., Alakidi, A., Shilev, P. |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| DOI: |
10.5281/zenodo.6532843 |
| Popis: |
Werdnig-Hoffmann disease (Infantile spinal muscular atrophy) is a genetic disease that manifests itself in early childhood through progressive muscle weakness due to the death of motor neurons in the spinal cord (lower motor neurons). The disease is usually fatal within the first two years of life. The most common cause of death is pneumonia, the development of which is favored by inefficient respiratory movements due to denervation of the diaphragmatic muscles. We present a case of Werdnig-Hoffman Disease proven by genetic testing, with involvement of higher neuronal groups - basal ganglia, thalamus, brainstem. The disease led to the death of a 6-month-old infant, with the immediate cause - bilateral pneumonia with severe circulatory changes. Morphologically, the microscopic changes typical of the disease in the brain substance at different levels and the damage to the related muscle groups have been confirmed. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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