Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures

Sharma, Suvasini; Arya, Ravindra; Raju, Krishnaprabhu; Kumar, Atin; Scheper, Gert C.; Knaap, Marjo S. van der; Gulati, Sheffali

doi:10.1177/0883073810381529

Cited by 8 publications

(6 citation statements)

References 7 publications

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“…We did not find an association between these findings and the course of the disease, because they appear both in chronic and acute forms with similar proportions. One of our children had bilateral palpebral ptosis at the onset of the disease, which is an infrequent but already described symptom24; another girl showed hemiparesis as her first symptom, which is also uncommon 25…”

Section: Discussionmentioning

confidence: 65%

Vanishing White Matter Disease in a Spanish Population

Turón-Viñas

Pineda

Cusí

et al. 2014

J Cent Nerv Syst Dis

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Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too. In four children, we observed optic atrophy and three also had progressive macrocephaly, which is not common in VWM disease. The first two cases were diagnosed before the 1980s. Therefore, they were diagnosed by necropsy studies. The last 16 patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2 cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states. Previously, there were no other reports to confirm this fact. We also found some mutations not described in previous reports: c.1090C>T in eIF2B4, c.314A>G in eIF2B5, and c.877C>T in eIF2B5.

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Section: Discussionmentioning

confidence: 65%

Vanishing White Matter Disease in a Spanish Population

Turón-Viñas

Pineda

Cusí

et al. 2014

J Cent Nerv Syst Dis

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“…[ 4 ] Earlier cases have been reported from Europe, China, Japan, and India. [ 5 ] VWM disease is characterized by progressive ataxia and spasticity and periods of acute deterioration precipitated by febrile illness or head trauma. We suspected VWM disease based on clinical features and MRI findings.…”

Section: Discussionmentioning

confidence: 99%

Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene

et al. 2017

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A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on fluid-attenuated inversion recovery images. Clinical exome sequencing revealed a novel homozygous mutation c.1270T>G: pCys424Gly in exon 11 of the EIF2B3 gene. This novel mutation is reported in this article along with a literature review.

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“…Thus, these DWI findings may reflect a histological state in better preserved white matter, where the myelin degeneration is still going on. It is quite surprising that until now reduced proton diffusion in VWM was rarely reported, despite of extensive studies in the past few years (1)(2)(3)(4)(5)(6)11). In addition to the fact that very little reports dealt with diffusion weighted images, the possible reasons could be that the active degenerative process in VWM occurs only in a short time period during which the accompanied restriction of proton diffusion is observable, and more distinctively in younger patients.…”

Section: Discussionmentioning

confidence: 99%

“…VANISHING WHITE MATTER disease (VWM) is an inherited leukoencephalopathy with wide phenotypic variation, from cases with antenatal onset and early demise to such of adult-onset and slow progression (1)(2)(3)(4)(5)(6). The genetic causes of the disease are mutations in one of the five subunits of the eucaryotic translation initiation factor eIF2B (7).…”

mentioning

confidence: 99%

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

Ding

Bley

Ohlenbusch

et al. 2011

Magnetic Resonance Imaging

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To find imaging signs of active degenerative processes in vanishing white matter disease (VWM), six VWM patients and six matched controls underwent MR examinations. The data were analyzed with modified Scheltens scales for morphological findings and determined quantitatively for apparent diffusion coefficient (ADC). Single‐voxel MR spectra were acquired at the parietal white matter and analyzed with LCModel. Typical VWM brain lesions were found in all patients accompanied by proton diffusion abnormalities: Increased ADC appeared in brain regions with severe myelin destruction in all patients, and reduced ADC in two of six younger patients in remaining white matter adjacent to the lesions or at the borders around the lesions, who had a short history of the disease (≤ 1 year). The MR spectroscopy revealed reductions of NAA, Cho, and Cr, which correlate to the grade of white matter abnormalities. An increase of myo‐inositol as marker of reactive gliosis was missing. Thus, restricted proton diffusion was evident in younger VWM patients with short history of disease, which in combination with lack of reactive gliosis may reflect early white matter degeneration in VWM. The multimodal MR methods are useful for characterizing such tissue degeneration in brain in vivo. J. Magn. Reson. Imaging 2012;35:926–932. © 2011 Wiley Periodicals, Inc.

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Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures

Cited by 8 publications

References 7 publications

Vanishing White Matter Disease in a Spanish Population

Vanishing White Matter Disease in a Spanish Population

Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

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