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Título

LEUKOENCEPHALOPATHY WITH EVANESCENT WHITE MATTER PRESENTING WITH SUBCORTICAL DEMENTIA, A CASE REPORT

RESUMO

CASE REPORT
A 48-year aged woman was attended at the SCMSP Cognitive and Behavioral Neurology outpatient clinic in May 2020. She was graduated on high school and a had a job as a supermarket cashier. She failed 1 year at high school and was fired on one occasion when she argued with a customer. On 2017 she had an isolated episode of tonic-clonic seizure, evolving with a progressive picture of incoordination of gait and cognitive processing speed impairment. She also had chronic visual blurring and early menopause at age 45. On neurological examination, she was inattentive, disoriented in time and space, with optic atrophy and cerebellar ataxia. She presented significant impairment on cognitive scales MMSE: 18/30 and functionality scales, KATZ: 6/6 and LAWTON: 18/27. She underwent neuropsychological assessment, which showed a 50 QI, severe orientation and recent memory impairment, significant emotional lability and executive disfunction, little initiative and flexibility, and a lot of confabulation. Neuroimaging revealed cystic degeneration of the white matter of both cerebral hemispheres with extension to the U-fibers and diffusion-symmetric curvilinear periventricular restriction. She underwent genetic testing, which revealed homozygosity in the EIF2B5 gene, with a p.Arg113His mutation.

DISCUSSION
LEWB is an autosomal recessive, chronic and progressive leukodystrophy caused by mutation in any of the 5 genes encoding eIF2B. It typically presents with ataxia, spasticity and optic atrophy that typically follow an initial stressor event. On adults, a case series with 16 patients (Labauge et. Al, 2009) showed cognitive decline in 8 subjects, in addition to spasticity and/or cerebellar syndrome, seizures, dementia, psychiatric symptoms, and ovarian failure (Ovarioleukodystrophy). The correlation between LSBE and its neuropsychiatric presentations has already been studied by authors such as Van der Knaap, 1997, in a report of 9 children with diffuse cystic degeneration of BS, relatively preserving the cerebral cortex; Prass, 2001, in a report of 1 patient with presenile dementia syndrome; Van der Knaap, 2004, in a report of 1 case of a 25-year-old woman who presented paranoid behavior, evolving with a decline in cognitive functions.

CONCLUSION
Our patient presented with a subcortical dementia profile with spatial disorientation, slow cognitive processing, attentional impairment, dysnomia, visuoconstructive disorder with preserved recognition and cortical function