Dados do Trabalho

Título

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER: A CASE REPORT

RESUMO

Case: CRS, male, 2 years and 2 months, from Goiânia-GO. A previously healthy child, 15 months of age, daughter of first cousins, after receiving a booster vaccine (triple viral vaccine, dTP, hepatitis A, OPV) developed high fever, pain in the lower limbs, edema and hyperemia at the injection site. He evolved with progressive tetraparesis with difficulty sitting and supporting the trunk, inability to walk, spastic hypertonia in four limbs, presence of abnormal reflexes, macrocephaly and seizures. A genetic test was performed showing EIF2B5 alteration and cranial magnetic resonance imaging suggestive of leucoencephalopathy with vanishing White matter (VWM). Discussion: VWM, also known as diffuse central myelinopathy and Cree leukoencephalopathy, is a chronic and progressive white matter disorder exacerbated by infection, head trauma or other stresses. These stresses can trigger the first symptoms of the disease or worsen existing symptoms and can cause affected individuals to become lethargic or comatose. The inheritance of VWM is autosomal recessive. Mutations in any of the five genes encoding the eukaryotic translation initiation factor EIF2B subunits are the cause of VWM and its phenotypic variants. The partial loss of EIF2B function makes it more difficult for the body's cells to regulate protein synthesis and cope with changing conditions and stress. Glial cells appear to have a selective vulnerability to decreased eIF2B activity, which explains the predominant involvement of white matter in the brain. The most distinctive clinical feature of VWM is progressive neurological deterioration, often with prominent ataxia and spasticity. There are five clinical subtypes of VWM based on age of onset. Patients with an earlier age of onset have a more severe course and decline more rapidly. Prevalence is unknown. Although it is a rare disease, it is believed to be one of the most common hereditary diseases that affect the white matter. Final comments: The findings in the literature are compatible with the clinical picture of the patient described here. Elucidating the clinical course of VWM will be useful to facilitate early diagnosis and avoid specific situations that could trigger the deterioration of the disease, as well as to better understand the pathogenesis and provide subsidies for possible therapeutic targets and treatment strategies in the future.

Palavras Chave

Vaccine, leucoencephalopathy, epilepsy

Área

Neurologia Infantil