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01-06-2018 | Original Communication

Similarities and differences between infantile and early childhood onset vanishing white matter disease

Authors: Ling Zhou, Haihua Zhang, Na Chen, Zhongbin Zhang, Ming Liu, Lifang Dai, Jingmin Wang, Yuwu Jiang, Ye Wu

Published in: Journal of Neurology | Issue 6/2018

Abstract

Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1–3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV–V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan–Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

van der Knaap MS, Pronk JC, Scheper GC (2006) Vanishing white matter disease. Lancet Neurol 5(5):413–423. https://doi.org/10.1016/S1474-4422(06)70440-9 CrossRefPubMed

Bugiani M et al (2010) Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol 69(10):987–996. https://doi.org/10.1097/NEN.0b013e3181f2eafa CrossRefPubMed

Leegwater PA et al (2001) Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 29(4):383–388. https://doi.org/10.1038/ng764 CrossRefPubMed

van der Knaap MS et al (2002) Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 51(2):264–270CrossRefPubMed

Scheper GC, Proud CG, van der Knaap MS (2006) Defective translation initiation causes vanishing of cerebral white matter. Trends Mol Med 12(4):159–166. https://doi.org/10.1016/j.molmed.2006.02.006 CrossRefPubMed

Pan YX et al (2009) Eukaryotic translation initiation factor 2B and leukoencephalopathy with vanishing white matter. Beijing Da Xue Xue Bao 41(5):608–610PubMed

van der Knaap MS et al (1998) Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 51(2):540–547CrossRefPubMed

Fogli A et al (2002) A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 59(12):1966–1968CrossRefPubMed

Richards S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30 CrossRefPubMedPubMedCentral

10.

Shevell MI et al (2009) Comorbidities in cerebral palsy and their relationship to neurologic subtype and GMFCS level. Neurology 72(24):2090–2096. https://doi.org/10.1212/WNL.0b013e3181aa537b CrossRefPubMed

11.

Malt MA et al (2016) Correlation between the Gait Deviation Index and gross motor function (GMFCS level) in children with cerebral palsy. J Child Orthop 10(3):261–266. https://doi.org/10.1007/s11832-016-0738-4 CrossRefPubMedPubMedCentral

12.

Gunel MK et al (2009) Relationship among the Manual Ability Classification System (MACS), the Gross Motor Function Classification System (GMFCS), and the functional status (WeeFIM) in children with spastic cerebral palsy. Eur J Pediatr 168(4):477–485. https://doi.org/10.1007/s00431-008-0775-1 CrossRefPubMed

13.

Loes DJ et al (2003) Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 61(3):369–374CrossRefPubMed

14.

Zhang H et al (2015) Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. PLoS One 10(3):e0118001. https://doi.org/10.1371/journal.pone.0118001 CrossRefPubMedPubMedCentral

15.

Jansen AC et al (2008) Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. Epilepsia 49(5):910–913. https://doi.org/10.1111/j.1528-1167.2008.01542.x CrossRefPubMed

16.

Sharma S et al (2011) Vanishing white matter disease associated with ptosis and myoclonic seizures. J Child Neurol 26(3):366–368. https://doi.org/10.1177/0883073810381529 CrossRefPubMed

17.

Vermeulen G et al (2005) Fright is a provoking factor in vanishing white matter disease. Ann Neurol 57(4):560–563. https://doi.org/10.1002/ana.20418 CrossRefPubMed

18.

Prange H, Weber T (2011) Vanishing white matter disease: a stress-related leukodystrophy. Nervenarzt 82(10):1330–1334. https://doi.org/10.1007/s00115-011-3284-9 CrossRefPubMed

19.

Kaczorowska M et al (2006) Acute fright induces onset of symptoms in vanishing white matter disease-case report. Eur J Paediatr Neurol 10(4):192–193. https://doi.org/10.1016/j.ejpn.2006.05.008 CrossRefPubMed

20.

Fogli A et al (2004) The effect of genotype on the natural history of eIF2B-related leukodystrophies. Neurology 62(9):1509–1517CrossRefPubMed

21.

Alorainy IA et al (1999) Cree leukoencephalopathy: neuroimaging findings. Radiology 213(2):400–406. https://doi.org/10.1148/radiology.213.2.r99oc28400 CrossRefPubMed

22.

Fogli A et al (2002) Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol 52(4):506–510. https://doi.org/10.1002/ana.10339 CrossRefPubMed

23.

Labauge P et al (2007) CACH/VWM syndrome and leucodystrophies related to EIF2B mutations. Rev Neurol (Paris) 163(8–9):793–799CrossRef

24.

van der Lei HD et al (2012) Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics 43(1):22–26. https://doi.org/10.1055/s-0032-1307456 CrossRefPubMed

25.

Bugiani M et al (2011) Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol 70(1):69–82. https://doi.org/10.1097/NEN.0b013e318203ae74 CrossRefPubMedPubMedCentral

26.

Wong K et al (2000) Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Acta Neuropathol 100(6):635–646CrossRefPubMed

27.

Van Haren K et al (2004) The life and death of oligodendrocytes in vanishing white matter disease. J Neuropathol Exp Neurol 63(6):618–630CrossRefPubMed

28.

Huber T et al (2017) Automated segmentation reveals silent radiographic progression in adult-onset vanishing white-matter disease. Neuroradiol J 30(1):5–9. https://doi.org/10.1177/1971400916678222 CrossRefPubMed

29.

Lutsep HL et al (1997) Clinical utility of diffusion-weighted magnetic resonance imaging in the assessment of ischemic stroke. Ann Neurol 41(5):574–580. https://doi.org/10.1002/ana.410410505 CrossRefPubMed

30.

Schaefer PW (2001) Applications of DWI in clinical neurology. J Neurol Sci 186(Suppl 1):S25–S35CrossRefPubMed

31.

Romano A et al (2003) Diffusion-weighted MR imaging: clinical applications in neuroradiology. Radiol Med 106(5–6):521–548PubMed

32.

Karaarslan E, Arslan A (2008) Diffusion weighted MR imaging in non-infarct lesions of the brain. Eur J Radiol 65(3):402–416. https://doi.org/10.1016/j.ejrad.2007.04.023 CrossRefPubMed

33.

Bhatt A et al (2009) Diffusion-weighted imaging: not all that glitters is gold. South Med J 102(9):923–928. https://doi.org/10.1097/SMJ.0b013e3181a9142a CrossRefPubMed

34.

Le Bihan D et al (1986) MR imaging of intravoxel incoherent motions: application to diffusion and perfusion in neurologic disorders. Radiology 161(2):401–407. https://doi.org/10.1148/radiology.161.2.3763909 CrossRefPubMed

35.

Patay Z (2005) Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 15(11):2284–2303. https://doi.org/10.1007/s00330-005-2846-2 CrossRefPubMed

36.

Hanefeld F et al (1993) Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 24(5):244–248. https://doi.org/10.1055/s-2008-1071551 CrossRefPubMed

37.

Sijens PE et al (2005) 1H chemical shift imaging, MRI, and diffusion-weighted imaging in vanishing white matter disease. Eur Radiol 15(11):2377–2379. https://doi.org/10.1007/s00330-005-2783-0 CrossRefPubMed

38.

van der Lei HD et al (2012) Restricted diffusion in vanishing white matter. Arch Neurol 69(6):723–727. https://doi.org/10.1001/archneurol.2011.1658 PubMedCrossRef

39.

Ding XQ et al (2012) Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study. J Magn Reson Imaging 35(4):926–932. https://doi.org/10.1002/jmri.23517 CrossRefPubMed

Title: Similarities and differences between infantile and early childhood onset vanishing white matter disease
Authors: Ling Zhou
Haihua Zhang
Na Chen
Zhongbin Zhang
Ming Liu
Lifang Dai
Jingmin Wang
Yuwu Jiang
Ye Wu
Publication date: 01-06-2018
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 6/2018
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-018-8851-6

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Similarities and differences between infantile and early childhood onset vanishing white matter disease

Abstract

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Abstract

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