Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis

Xu, Lulu; Zhong, Meixiang; Yang, Yuyuan; Wang, Meng; An, Nina; Xu, Xin; Zhu, Yufeng; Li, Zengwen; Chen, Huili; Zhao, Renliang; Zheng, Xueping

doi:10.1007/s10072-021-05710-4

Cited by 3 publications

(1 citation statement)

References 30 publications

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“…In addition, the relationship between specific genotypes and clinical phenotypes largely remains largely unknown. Previous studies have observed intra-familial phenotypic variability, indicating that environmental or epigenetic factors might significantly contribute to this heterogeneity [ 12 ]. Future reports on individual cases and case series will be invaluable in more accurately delineating the connection between genotype and phenotype.…”

Section: Discussionmentioning

confidence: 99%

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants

Gui,

He,

Qin

2024

BMC Neurol

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Background Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder affecting the white matter of the brain. It typically manifests during childhood, with clinical features including sudden and severe neurological deterioration triggered by stressors such as febrile illness, minor head trauma, or stressful events. Adult-onset cases of VWM are exceptionally uncommon. Case presentation In this case, we present an adult patient who exhibited late-onset progressive VWM characterized by ataxia, postural instability, cognitive impairment, and emotional disturbances. Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed diffuse and confluent hyperintensity in the white matter on T2-weighted images, along with periventricular cavitations. Genetic testing confirmed the diagnosis of VWM, identifying two heterozygous variants in the eukaryotic translation initiation factor 2B subunit γ (EIF2B3) gene: a pathogenic variant, c.1037 T > C (p.I346T), and a variant of undetermined significance, c.22A > T (p.M8L). Upon a 2-year follow-up, the patient's symptoms deteriorated rapidly following a COVID-19 infection. Conclusions In conclusion, we have presented a case of classical adult-onset VWM. Since there are no cures or definitive treatments for the disease, it's extremely important to focus on early diagnosis and the prevention of stressors to avoid acute deterioration.

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Section: Discussionmentioning

confidence: 99%

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants

Gui,

He,

Qin

2024

BMC Neurol

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Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients

Ren

Chen

et al. 2022

Neurol Sci

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Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders

Dong,

Shang,

Liu

et al. 2023

Ital J Pediatr

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Background The pediatric genetic white matter disorders are characterized by a broad disease spectrum. Genetic testing is valuable in the diagnosis. However, there are few studies on the clinical and genetic spectrum of Chinese pediatric genetic white matter disorders. Methods The participants were enrolled from the cohort of Peking Union Medical College Hospital. They all received history collection, brain MRI and gene sequencing. Their neurologic complaints which were related to white matter disorders occurred before 18. Brain MRI indicated periventricular and/or deep white matter lesions, fazekas grade 2–3. Results Among the 13 subjects, there were 11 males and two females. The average age of onset was 10.0 ± 5.5 years old. The potential genetic variants were found in 84.6% (11/13) subjects. The ABCD1 showed the greatest mutation frequency (30.8%, 4/13). The EIF2B3 A151fs, EIF2B4 c.885 + 2T > G, EIF2B5 R129X and MPV17 Q142X were novel pathogenic/likely pathogenic variants. 100% (4/4) ABCD1 carriers were accompanied by visual impairment, whereas 100% (3/3) EIF2B carriers developed dysuria. 100% (4/4) ABCD1 carriers exhibited diffuse white matter hyperintensities mainly in the posterior cortical regions, while the EIF2B4 and EIF2B5 carriers were accompanied by cystic degeneration. Conclusion There is genotypic and phenotypic heterogeneity among Chinese subjects with pediatric genetic white matter disorders. The knowledge of these clinical and genetic characteristics facilitates an accurate diagnosis of these diseases.

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Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis

Cited by 3 publications

References 30 publications

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants

Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants

Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients

Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders

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