Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.

Authors :: Chung AD
Mortelé KJ
Source :: Clinical imaging [Clin Imaging] 2019 Mar - Apr; Vol. 54, pp. 37-39. Date of Electronic Publication: 2018 Dec 02.
Publication Year :: 2019
Abstract: Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we present the first case in the radiologic literature on the MRI findings in a patient with this rare combined diagnosis undergoing workup for burden of disease.<br /> (Copyright © 2018 Elsevier Inc. All rights reserved.)

Subjects :: Endoscopy methods
Humans
Intestinal Polyposis complications
Magnetic Resonance Imaging methods
Male
Middle Aged
Mutation
Intestinal Polyposis congenital
Neoplastic Syndromes, Hereditary complications
Smad4 Protein genetics
Telangiectasia, Hereditary Hemorrhagic complications

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