Leukoencephalopathy with vanishing white matter caused by <i>EIF2B5</i> gene mutations: a case report

Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we report a case VWM disease in a boy with white matter lesions, in whom early onset and neurological symptoms suggested infantile form of the disease. The diagnosis was confirmed by the detection of biallelic mutations c.1688G>A (p.Arg563Gln) and c.1309G>A (p.Val437Met) in the EIF2B5 gene. The c.1309G>A mutation (p.Val437Met) was detected for the first time; it caused the development of severe disease.

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Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations

European Journal of Neurology ◽

10.1111/j.1468-1331.2008.02395.x ◽

2009 ◽

Vol 16 (3) ◽

pp. e42-e43 ◽

Cited By ~ 3

Author(s):

H.-N. Lee ◽

S.-H. Koh ◽

K.-Y. Lee ◽

C.-S. Ki ◽

Y. J. Lee

Keyword(s):

White Matter ◽

Late Onset ◽

Gene Mutations ◽

Compound Heterozygous ◽

White Matter Disease ◽

Vanishing White Matter Disease ◽

Vanishing White Matter

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Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient

Rinsho Shinkeigaku ◽

10.5692/clinicalneurol.cn-001138 ◽

2018 ◽

Vol 58 (5) ◽

pp. 302-307 ◽

Cited By ~ 2

Author(s):

Makoto Takemaru ◽

Yutaka Shimoe ◽

Kota Sato ◽

Akihiro Hashiguchi ◽

Hiroshi Takashima ◽

...

Keyword(s):

Case Report ◽

White Matter ◽

Female Patient ◽

White Matter Lesions ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

I Gene ◽

Tooth Disease

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Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations

Clinical Genetics ◽

10.1111/cge.13378 ◽

2018 ◽

Vol 94 (3-4) ◽

pp. 391-392 ◽

Cited By ~ 1

Author(s):

T. Okazaki ◽

Y. Saito ◽

T. Hayashida ◽

S. Akaboshi ◽

N. Miyake ◽

...

Keyword(s):

White Matter ◽

Gene Mutations ◽

White Matter Lesions ◽

Cerebral White Matter ◽

Cortical Dysgenesis ◽

Cerebral White Matter Lesions ◽

Cerebellar Cysts

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Arg113His mutation of vanishing white matter is not present in multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458506070248 ◽

2007 ◽

Vol 13 (3) ◽

pp. 424-427 ◽

Cited By ~ 6

Author(s):

M. Lucas ◽

R. Suarez ◽

A. Marcos ◽

F. Solano ◽

A. Venegas ◽

...

Keyword(s):

Multiple Sclerosis ◽

White Matter ◽

High Frequency ◽

Translation Initiation Factor ◽

Initiation Factor ◽

Cystic Degeneration ◽

Eukaryotic Translation ◽

Eukaryotic Translation Initiation ◽

Vanishing White Matter ◽

Head Neck

Vanishing white matter (VWM) is a childhood leukoencephalopathy with central hypomyelination, white matter rarefaction, and cystic degeneration. Adult onset, variable phenotype, and high frequency characterize Arg113His mutation caused by G338A polymorphism associated with VWM. A patient with trauma-associated onset, and clinical features compatible with multiple sclerosis (MS), was homozygous for G338A mutation of eukaryotic translation initiation factor (eIF2B5). The authors checked a cohort of 101 MS patients, including 19 with head/neck trauma-associated onset, and failed to find the mutation, described above, in MS chromosomes. Our report does not exclude the presence in MS chromosomes of other mutations in the eIF2B gene family. Multiple Sclerosis 2007; 13: 424-427. http://msj.sagepub.com

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Adult-onset vanishing white matter disease as differential diagnosis of primary progressive multiple sclerosis: A case report

Multiple Sclerosis Journal ◽

10.1177/1352458514546515 ◽

2014 ◽

Vol 21 (5) ◽

pp. 666-668 ◽

Cited By ~ 4

Author(s):

Marina Herwerth ◽

Benedikt J Schwaiger ◽

Kornelia Kreiser ◽

Bernhard Hemmer ◽

Rüdiger Ilg

Keyword(s):

Multiple Sclerosis ◽

White Matter ◽

Diffusion Weighted Imaging ◽

White Matter Lesions ◽

Progressive Multiple Sclerosis ◽

White Matter Disease ◽

Primary Progressive Multiple Sclerosis ◽

Adult Onset ◽

Vanishing White Matter Disease ◽

Vanishing White Matter

We report the case of a 42-year-old woman with a slowly progressive cerebellar syndrome. In contrast to a relatively mild clinical presentation, the magnetic resonance imaging (MRI) showed extensive leukencephalopathy with cystic degeneration. Initially primary progressive multiple sclerosis (PPMS) was suspected. Additional diffusion-weighted imaging revealed restricted diffusion in the white matter lesions with a reduced apparent diffusion coefficient. Genetic testing showed vanishing white matter disease (VWM) with c.260C>T EIF2B3 mutation. In conclusion, in cases with relatively mild symptoms and extensive white matter lesions, adult-onset VWM should be considered as differential diagnosis of PPMS and diffusion-weighted imaging may be helpful to identify suspected cases.

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