Unknown neurodegenerative disease in neonate

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.