with headache and seizures

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Presentation transcript:

with headache and seizures A 18 year old woman with headache and seizures Teaching NeuroImages Neurology Resident and fellow section © 2018 American Academy of Neurology

VIGNETTE A 18-year-old woman presented with focal motor seizures with secondary generalization and headache Two weeks before: viral infection Psychological stress background History of premature ovarian failure Neurological examination: generalized hyperreflexia Villar-Quiles, et al. © 2018 American Academy of Neurology

IMAGING Villar-Quiles, et al. A B C D F E FIGURE CAPTION (A)MRI Brain Axial T2: extensive leukoencephalopathy (B) (C) MRI brain axial T2 FLAIR: diffuse abnormality of the cerebral white matter with evidence of partial cystic degeneration (white arrows) (D) MRI Brain Axial T1+Gd: no contrast enhancement (E) MRI Brain Sagittal T1: abnormal white matter signal and thinning of the corpus callosum (F) MR Spectroscopy: presence of mildly elevated lactate peak Villar-Quiles, et al. © 2018 American Academy of Neurology

Adult-onset Vanishing White Matter Disease VWM is one of the most prevalent inherited childhood leucoencephalopathies Phenotypic variation of VWM is extremely wide, with episodes of sudden major neurological degeneration triggered by febrile infections, minor head trauma or stressful events MRI findings are diagnostic and are associated with mutations in EIF2B1-5 genes REFERENCES 1.van der Knaap MS., Pronk JC., Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006;5(5):413-23, doi: 10.1016/S1474-4422(06)70440-9. 2.van der Lei HDW., van Berkel CGM., van Wieringen WN., Brenner C., Feigenbaum A., Mercimek-Mahmutoglu S., et al. Genotype-phenotype correlation in vanishing white matter disease. Neurology. 2010;75(17):1555-9, doi: 10.1212/WNL.0b013e3181f962ae. Villar-Quiles, et al. © 2018 American Academy of Neurology