Published: 2020-05-22

A case report of leukoencephalopathy with vanishing white matter disease

Bommidi Navya, Vamshi Krishna Kondle, Komal Uppal


Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. Childhood ataxia and diffuse central nervous system hypomyelination are the common findings. The disease is characterized by chronic progressive and episodic deterioration with ataxia, spasticity and optic atrophy. VWM is caused by mutation in any of the five genes encoding the subunits of eukaryotic translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The cause of the disease is unknown. Authors are reporting an 8 year old male child presented with complaint of difficulty while walking since one month and history viral fever was present one month back. MRI revealed bilateral symmetrical periventricular T2 hyperintensities with T1 hypointensities. Perivenular sparing was seen and molecular analysis shown eIF2B4 mutations confirmation of vanishing white matter disease. No specific treatment is available and advised to avoid stress and triggers.


Cerebellar ataxia, eIF2B gene mutations, White matter disorders

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Vander Knaap MS, Pronak JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006;5(4):413-23.

Vander Knaap MS, Pronak JC, Andrea AM, Cees BM, Ruud BH, Peter AJ Leegwater, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol. 2002;51(2):264-70.

Labauge P, Fogli A, Niel F, Rodriguez D. CACH/VWM syndrome and leucodystrophies related to EIF2B mutations. Rev Neurol. 2007;163:793-9.

Schiff mann R, Moller JR, Trapp BD, Edward MK, Robert GF, Norman WB. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994;35(3):331-40.

Vander Knaap MS, Wevers RA, Kure S, Jaeken J, Verhoeven NM, Gabreel Fons JM, et al. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol. 1999;14(11):728-31.

Vanderver A, Schiffmann R, Timmons M, Kellersberger KA, Fabris D, Hoffman EP, et al. Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clini Chem. 2005 Nov 1;51(11):2031-42.

Dastych M, Gottwaldova J, Pohludka M, Prikryl P, Benovoska M. Determination of asialotransferrin in the cerebrospinal fluid with the HPLC method. Scand J Clin Lab Invest. 2010;70(2):87-91.

Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen HJ, Frahm J. Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics. 1993;24(5):244-8.

Vander Knaap MS, Barth PG, Gabreels FJ, Franzoni E, Begeer JH, Valk J, et al. A new leukoencephalopathy with vanishing white matter. Neurology. 1997;48:845-55.

Vander Knaap MS, Kamphorst W, Barth PG, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology. 1998;51:540-7.

Fogli A, Dionisi-Vici C, Deodato F, Bartuli A, Bertini E, Boespflug-Tanguv O. A severe variant of childhood ataxia with central hypomyelination/ vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology. 2002;59:1966-8.

Vander Knaap MS, Van Berkel CGM, Herms J, Coster RV, Baethmann M, Naidu S, et al. eIF2B related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet. 2003;73(5):1199-07.