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PET/CT til diagnostik af sjaelden genetisk sygdom hos et spaedbarn
Engelsk titel: Positron emission tomography/computed tomography for diagnosing a rare genetic disease in an infant Läs online Författare: Duvnjak, Sandra ; Nielsen, Anne L ; Spasojevic, Diana Språk: Dan Antal referenser: 4 Dokumenttyp: Fallbeskrivning UI-nummer: 17017307

Tidskrift

Ugeskrift for Laeger 2016;178(23)2203-4 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

Generalized arterial calcification of infancy is a very rare genetic disorder charac-terized by arterial calcifications. The symptoms are apparent within the first few weeks of life and the disease shows high mortality rates. This case report describes the clinical presentation, the radiological findings and the treatments challenges.