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
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Författare:
Duvnjak, Sandra
;
Nielsen, Anne L
;
Spasojevic, Diana
Email: Sandra.duvnjak@rsyd.dk
Språk: Dan
Antal referenser: 4
Dokumenttyp:
Fallbeskrivning
UI-nummer: 17017307
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.