MRI of a family with leukoencephalypathy with vanishing white matter

被引:8
作者
Jurkiewicz, E
Mierzewska, H
Bekiesinska-Figatowska, M
Pakua-Kosciesza, I
Kmiec, T
Scheper, G
van der Knaap, MS
Pronicka, E
机构
[1] Miedzyleski Specialist Hosp, Dept Diagnost Imaging, PL-04749 Warsaw, Poland
[2] Childrens Mem Hlth Inst, Dept Diagnost Imaging, Warsaw, Poland
[3] Childrens Mem Hlth Inst, Dept Neurol, Warsaw, Poland
[4] Free Univ Amsterdam, Med Ctr, Amsterdam, Netherlands
关键词
brain; white matter; leukoencephalopathy; vanishing white matter; MRI; MR spectroscopy;
D O I
10.1007/s00247-005-1498-3
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Leukoencephalopathy with vanishing white matter (VWM) is a newly described entity with characteristic MRI features. We report the cranial MRI findings in three sisters with slowly progressive neurological deterioration. The MRI showed symmetrical diffuse abnormalities of cerebral white matter with hypointensity on FLAIR images. The diagnosis of leukoencephalopathy with VWM was made on the basis of genetic analysis.
引用
收藏
页码:1027 / 1030
页数:4
相关论文
共 50 条
[41]   Vanishing white matter: a leukodystrophy due to astrocytic dysfunction [J].
Bugiani, Marianna ;
Vuong, Caroline ;
Breur, Marjolein ;
van der Knaap, Marjo S. .
BRAIN PATHOLOGY, 2018, 28 (03) :408-421
[42]   The spectrum of mutations for the diagnosis of vanishing white matter disease [J].
Scali, O. ;
Di Perri, C. ;
Federico, A. .
NEUROLOGICAL SCIENCES, 2006, 27 (04) :271-277
[43]   The spectrum of mutations for the diagnosis of vanishing white matter disease [J].
O. Scali ;
C. Di Perri ;
A. Federico .
Neurological Sciences, 2006, 27 :271-277
[44]   Diffusion tensor tractography in vanishing white matter disease [J].
Perez-Sanchez, S. ;
Lopez-Dominguez, J. M. ;
Arduan, J. ;
Izquierdo, G. .
NEUROLOGIA, 2011, 26 (02) :122-123
[45]   Vanishing white matter disease associated with progressive macrocephaly [J].
Pineda, M. ;
R-Palmero, A. ;
Baquero, M. ;
O'Callaghan, M. ;
Aracil, A. ;
van der Knaap, M. ;
Scheper, G. C. .
NEUROPEDIATRICS, 2008, 39 (01) :29-32
[46]   Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families [J].
Albacete, Marianna Angelo Palmejani ;
Simao, Gustavo Novelino ;
Lourenco, Charles Marques ;
dos Santos, Antonio Carlos .
NEURORADIOLOGY, 2024, 66 (09) :1553-1564
[47]   Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease [J].
Bugiani, Marianna ;
Postma, Nienke ;
Polder, Emiel ;
Dieleman, Nikki ;
Scheffer, Peter G. ;
Sim, Fraser J. ;
van der Knaap, Marjo S. ;
Boor, Ilja .
BRAIN, 2013, 136 :209-222
[48]   The visual white matter: The application of diffusion MRI and fiber tractography to vision science [J].
Rokem, Ariel ;
Takemura, Hiromasa ;
Bock, Andrew S. ;
Scherf, K. Suzanne ;
Behrmann, Marlene ;
Wandell, Brian A. ;
Fine, Ione ;
Bridge, Holly ;
Pestilli, Franco .
JOURNAL OF VISION, 2017, 17 (02) :4
[49]   Migraine with aura and white matter lesions: an MRI study [J].
Uggetti, Carla ;
Squarza, Silvia ;
Longaretti, Fabio ;
Galli, Alberto ;
Fiore, Paola Di ;
Reganati, Paolo Filippo ;
Campi, Adriana ;
Ardemagni, Andreana ;
Cariati, Maurizio ;
Frediani, Fabio .
NEUROLOGICAL SCIENCES, 2017, 38 :S11-S13
[50]   White-matter changes on MRI as surrogate marker [J].
Scheltens, P ;
Barkhof, F ;
Fazekas, F .
INTERNATIONAL PSYCHOGERIATRICS, 2003, 15 :261-265