[Importance of endocrine imaging methods in multiple endocrine neoplasia type 2A proved by mutation analysis].
Multiple endocrine neoplasias are rare, inherited disorders. The authors describe a case history of a patient with multiple endocrine neoplasia type 2A, who presented with unusual clinical manifestations. The diagnosis of phaeochromocytoma, which was the first manifestation of the disorder, was greatly facilitated with radiologic imaging methods. The authors review, on the basis of recent data from the literature, the importance of radiologic methods, which improved due to methodological advance. Finally, the authors emphasize the importance of follow-up for early diagnosis.
Cserepes
E
E
II. Belklinika, Semmelweis Orvostudományi Egyetem, Budapest.
Tóth
M
M
Rácz
K
K
Karlinger
K
K
Engloner
L
L
Szabó
P
P
Perner
F
F
Tulassay
Z
Z
D003952:Diagnostic Imaging / Q000379:methods; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000145:classification / Q000175:diagnosis*; D010673:Pheochromocytoma / Q000175:diagnosis*; D013964:Thyroid Neoplasms / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
Az endokrin szervek képalkotó vizsgálatának jelentösége mutációvizsgálattal igazolt multiplex endokrin neoplasia 2A típusának esete kapcsán.