Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder

被引：0

作者：

Chandra, Vishal ^{[1
]}

Aggarwal, Anjali ^{[2
]}

Moen, Amanda ^{[3
]}

Strul, Sasha ^{[4
]}

Ozutemiz, Can ^{[5
]}

机构：

[1] Univ Minnesota, Coll Liberal Arts, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Pediat, Div Genet & Metab, Minneapolis, MN 55455 USA

[3] Univ Minnesota, Dept Neurol, Div Pediat Neurol, Minneapolis, MN 55455 USA

[4] Univ Minnesota, Med Sch, Dept Ophthalmol & Visual Neurosci, Minneapolis, MN 55455 USA

[5] Univ Minnesota, Dept Radiol, MMC 292,420 Delaware St SE, Minneapolis, MN 55455 USA

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2023年

关键词：

FBXO11; brain; MRI; radiology; INTELLECTUAL DISABILITY; LOBE;

D O I：

10.1055/s-0043-1772491

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.

引用

页数：4

共 50 条

[1] New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene
Silva, Raquel Gouveia
Dupont, Juliette
Silva, Eduardo
Sousa, Ana Berta
JOURNAL OF AAPOS, 2022, 26 (05): : 268 - 270
[2] How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Megarbane, Andre
Mehawej, Cybel
Mahfoud, Daniel
Chouery, Eliane
Devriendt, Koenraad
Hijazi, Mariam
Ryu, Seung W.
Kim, JiHye
McNeill, Alisdair
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2024, 69
[3] De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
Gregor, Anne
Sadleir, Lynette G.
Asadollahi, Reza
Azzarello-Burri, Silvia
Battaglia, Agatino
Ousager, Lilian Bomme
Boonsawat, Paranchai
Bruel, Ange-Line
Buchert, Rebecca
Calpena, Eduardo
Cogne, Benjamin
Dallapiccola, Bruno
Distelmaier, Felix
Elmslie, Frances
Faivre, Laurence
Haack, Tobias B.
Harrison, Victoria
Henderson, Alex
Hunt, David
Isidor, Bertrand
Joset, Pascal
Kumada, Satoko
Lachmeijer, Augusta M. A.
Lees, Melissa
Lynch, Sally Ann
Martinez, Francisco
Matsumoto, Naomichi
McDougall, Carey
Mefford, Heather C.
Miyake, Noriko
Myers, Candace T.
Moutton, Sebastien
Nesbitt, Addie
Novelli, Antonio
Orellana, Carmen
Rauch, Anita
Rosello, Monica
Saida, Ken
Santani, Avni B.
Sarkar, Ajoy
Scheffer, Ingrid E.
Shinawi, Marwan
Steindl, Katharina
Symonds, Joseph D.
Zackai, Elaine H.
Univ, Washington Ctr Mendelian Genomics D. D. D.
Reis, Andre
Sticht, Heinrich
Zweier, Christiane
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (02) : 305 - 316
[4] Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma
Pighi, Chiara
Cheong, Taek-Chin
Compagno, Mara
Patrucco, Enrico
Arigoni, Maddalena
Olivero, Martina
Wang, Qi
Lopez, Cristina
Bernhart, Stephan H.
Grande, Bruno M.
Poggio, Teresa
Langellotto, Fernanda
Bonello, Lisa
Dall'Olio, Riccardo
Martinez-Martin, Sandra
Molinaro, Luca
di Celle, Paola Francia
Whitfield, Jonathan R.
Soucek, Laura
Voena, Claudia
Calogero, Raffaele A.
Morin, Ryan D.
Staudt, Louis M.
Siebert, Reiner
Zamo, Alberto
Chiarle, Roberto
BLOOD ADVANCES, 2021, 5 (23) : 5239 - 5257
[5] De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Gregor, Anne
Meerbrei, Tanja
Gerstner, Thorsten
Toutain, Annick
Lynch, Sally Ann
Stals, Karen
Maxton, Caroline
Lemke, Johannes R.
Bernat, John A.
Bombei, Hannah M.
Foulds, Nicola
Hunt, David
Kuechler, Alma
Beygo, Jasmin
Stobe, Petra
Bouman, Arjan
Palomares-Bralo, Maria
Santos-Simarro, Fernando
Garcia-Minaur, Sixto
Pacio-Miguez, Marta
Popp, Bernt
Vasileiou, Georgia
Hebebrand, Moritz
Reis, Andre
Schuhmann, Sarah
Krumbiegel, Mandy
Brown, Natasha J.
Sparber, Peter
Melikyan, Lyusya
Bessonova, Liudmila
Cherevatova, Tatiana
Sharkov, Artem
Shcherbakova, Natalia
Dabir, Tabib
Kini, Usha
Schwaibold, Eva M. C.
Haack, Tobias B.
Bertoli, Marta
Hoffjan, Sabine
Falb, Ruth
Shinawi, Marwan
Sticht, Heinrich
Zweier, Christiane
HUMAN MOLECULAR GENETICS, 2022, 31 (03) : 440 - 454
[6] Management of Intracranial Incidental Findings on Brain MRI
Langner, S.
Buelow, R.
Fleck, S.
Angermaier, A.
Kirsch, M.
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 2016, 188 (12): : 1123 - 1133
[7] MRI findings of intracranial tuberculomas
Sonmez, Guner
Ozturk, Ersin
Sildiroglu, H. Onur
Mutlu, Hakan
Cuce, Ferhat
Senol, M. Guney
Kutlu, Ali
Basekim, C. Cinar
Kizilkaya, Esref
CLINICAL IMAGING, 2008, 32 (02) : 88 - 92
[8] Cervical MRI findings in intracranial hypotension
Pierallini, A
Paolucci, A
Tinelli, E
Falcone, C
Caramia, F
Bonamini, M
Bianco, F
Bozzao, L
RIVISTA DI NEURORADIOLOGIA, 2004, 17 (01): : 79 - 83
[9] MRI findings of primary intracranial sarcomas in children
Claudia Lazarte-Rantes
Osmar Pillaca-Cruzado
Nella Baca-Hinojosa
Waldemar Mamani
Jorge Lee-Diaz
Carlos F. Ugas-Charcape
Pediatric Radiology, 2023, 53 : 1698 - 1703
[10] MRI findings of primary intracranial sarcomas in children
Lazarte-Rantes, Claudia
Pillaca-Cruzado, Osmar
Baca-Hinojosa, Nella
Mamani, Waldemar
Lee-Diaz, Jorge
Ugas-Charcape, Carlos F.
PEDIATRIC RADIOLOGY, 2023, 53 (08) : 1698 - 1703

← 1 2 3 4 5 →