Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies

被引：50
|
作者：
La Piana, Roberta [1 ]
Tonduti, Davide [2 ]
Dressman, Heather Gordish [3 ]
Schmidt, Johanna L. [3 ]
Murnick, Jonathan [4 ]
Brais, Bernard [5 ,6 ]
Bernard, Genevieve [7 ]
Vanderver, Adeline [3 ]
机构：
[1] McGill Univ, Dept Neuroradiol, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada
[2] Univ Pavia, Dept Brain & Behav Sci, Child Neuropsychiat Unit, I-27100 Pavia, Italy
[3] Childrens Natl Med Ctr, Dept Neurol, CGMR, Washington, DC 20010 USA
[4] Childrens Natl Med Ctr, Dept Radiol, Div Neuroradiol, Washington, DC 20010 USA
[5] McGill Univ, Dept Neurol & Neurosurg, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada
[6] McGill Univ, Dept Human Genet, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada
[7] Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ H3H 1P3, Canada
来源：
JOURNAL OF CHILD NEUROLOGY | 2014年 / 29卷 / 02期
关键词：
leukodystrophy; magnetic resonance imaging; hypomyelination; HYPOMYELINATING LEUKODYSTROPHY; HYPOGONADOTROPIC HYPOGONADISM; CEREBELLAR ATROPHY; HYPODONTIA; LEUKOENCEPHALOPATHY; MUTATIONS; SUBUNIT; ATAXIA;
D O I：
10.1177/0883073813503902
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features. The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other hypomyelinating disorders. The magnetic resonance imaging (MRI) examinations of 13 patients with POLR3A and POLR3B mutations and of 14 patients with other hypomyelinating disorders were analyzed. All the subjects with Pol III-related leukodystrophies presented hypomyelination associated with T2 hypointensity of the thalami and/or the pallida. Twelve subjects (92%) presented T2 hypointensity of the optic radiations. Cerebellar atrophy was observed in most patients (92%). The combination of the analyzed criteria identified patients with Pol III-related leukodystrophies with a sensitivity of 84.6% and a specificity of 92.9%.
引用
收藏
页码：214 / 220
页数：7
相关论文
共 50 条
  • [21] USE OF MAGNETIC RESONANCE IMAGING (MRI) TO MAP BRAIN ABSCESS EVOLUTION
    Aldrich, A.
    Boska, M. D.
    Uberti, M.
    McIntyre, E.
    Kielian, T.
    JOURNAL OF NEUROCHEMISTRY, 2009, 108 : 129 - 130
  • [22] Magnetic resonance imaging (MRI) of the brain in patients with systemic sclerosis (SSc)
    Andonopoulos, AP
    Yiannopoulos, G
    Meimaris, N
    Daoussis, D
    Paschalis, C
    Dimopoulos, P
    ANNALS OF THE RHEUMATIC DISEASES, 2003, 62 : 460 - 460
  • [23] Characteristic Brain Magnetic Resonance Imaging Pattern in PTEN Associated Disorders
    Tonduti, D.
    Kahn, I
    Schmidt, J.
    Waldman, A. T.
    Medne, L.
    Martin, J.
    Chapman, K.
    Gropman, A.
    Lanpher, B.
    Lourenco, C.
    Orcesi, S.
    Bonnemann, C.
    van der Knaap, M. S.
    Vanderver, A.
    ANNALS OF NEUROLOGY, 2012, 72 : S205 - S205
  • [24] Distinct pattern of microsusceptibility changes on brain magnetic resonance imaging (MRI) in critically ill patients on mechanical ventilation/oxygenation
    Thurnher, Majda M.
    Boban, Jasmina
    Roggla, Martin
    Staudinger, Thomas
    NEURORADIOLOGY, 2021, 63 (10) : 1651 - 1658
  • [25] Distinct pattern of microsusceptibility changes on brain magnetic resonance imaging (MRI) in critically ill patients on mechanical ventilation/oxygenation
    Majda M. Thurnher
    Jasmina Boban
    Martin Röggla
    Thomas Staudinger
    Neuroradiology, 2021, 63 : 1651 - 1658
  • [26] Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats
    Miguel-Garces, Maria
    Goncalves, Rita
    Quintana, Rodrigo
    Alvarez, Patricia
    Beckmann, Katrin M.
    Alcoverro, Emili
    Moioli, Melania
    Ives, Edward J.
    Madden, Megan
    Gomes, Sergio A.
    Galban, Evelyn
    Bentley, Tim
    Santifort, Koen M.
    Vanhaesebrouk, An
    Briola, Chiara
    Montoliu, Patricia
    Ibaseta, Unai
    Carrera, Ines
    FRONTIERS IN VETERINARY SCIENCE, 2024, 11
  • [27] MAGNETIC RESONANCE IMAGING PATTERN RECOGNITION IN SPORADIC INCLUSION-BODY MYOSITIS
    Tasca, Giorgio
    Monforte, Mauro
    De Fino, Chiara
    Kley, Rudolf A.
    Ricci, Enzo
    Mirabella, Massimiliano
    MUSCLE & NERVE, 2015, 52 (06) : 956 - 962
  • [28] Segmentation of brain tumor boundaries using pattern recognition of magnetic resonance spectroscopy
    Peck, DJ
    Hearshen, DO
    Soltanian-Zadeh, H
    Scarpace, LM
    Dodge, C
    Mikkelsen, T
    RADIOLOGY, 2001, 221 : 157 - 157
  • [29] Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
    Mohammad, Shekeeb S.
    Angiti, Rajeshwar Reddy
    Biggin, Andrew
    Morales-Briceno, Hugo
    Goetti, Robert
    Perez-Duenas, Belen
    Gregory, Allison
    Hogarth, Penelope
    Ng, Joanne
    Papandreou, Apostolos
    Bhattacharya, Kaustuv
    Rahman, Shamima
    Prelog, Kristina
    Webster, Richard, I
    Wassmer, Evangeline
    Hayflick, Susan
    Livingston, John
    Kurian, Manju
    Chong, W. Kling
    Dale, Russell C.
    BRAIN COMMUNICATIONS, 2020, 2 (02)
  • [30] Magnetic resonance imaging of the brain
    Koob, Meriam
    Dietemann, Jean-Louis
    PRESSE MEDICALE, 2007, 36 (03): : 492 - 495
12345