Online: 9 January 2023; Volume 2, Issue 1, No.1
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- Title:
- Unknown neurodegenerative disease in neonate
- Author: Оlena Kostiuk1, Ielyzaveta
Shunko1, Larysa Nikonova2, Valeria Tyshkevych3, Оlena Baranovska3, Аndriy Trokhymenko3
- Author Affiliation:
1.Shypuk National Healthcare University of Ukraine, Kyiv, Ukraine
2.National Children`s Hospital OKHMATDYT, Kyiv, Ukraine
3.Kyiv Perinatal Centre, Kyiv, Ukraine
Abstract
Aim. To present a rare case of unknown severe neurodegenerative disease in the newborn. Results. The case based in the analysis of results a detailed examination and diagnostic, the following observation and consequence in newborn baby. The differential diagnosis of the disease has been discussed between Hallevorden-Spatz syndrome, chorea-acanthocytosis and other diseases form the group of neurodegenerative diseases, but the final diagnosis has not been established. Conclusions. Clinical assessment, neuroimaging and molecular genetic diagnosis playing a major role in the diagnostic assessment of the group of neurodegenerative diseases.
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