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Neurodegeneration med jernakkumulation i hjernen

Forfatter(e)
Maria Bertelsen1 & Lars Kjærsgaard Hansen2 1) Børne- og Ungeafdelingen, Sydvestjysk Sygehus Esbjerg 2) H.C. Andersen Børnehospital, Odense Universitetshospital Ugeskr Læger 2015;177:V10140562
Reference: 
Ugeskr Læger 2015;177:V10140562
Blad nummer: 
Sidetal: 
2-3
Neurodegeneration with brain iron accumulation
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of syndromes. Whereas NBIA1 (panto­thenate kinase-associated neurodegeneration) has been known since 1922, some of the other diseases in the NBIA group have just been known for a few years. We present the case of a 16-year-old man who recently was diagnosed with NBIA4. He had had neurodegenerative symptoms since he was eight years old. The typical MRI findings in the basal ganglia were important in diagnosing NBIA. Furthermore gait analysis and specific genetic testing were performed.
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