Dados do Trabalho
ATYPICAL OUTCOME OF A PATIENT WITH ALEXANDER'S DISEASE
Apresentação do caso
The patient is a 7-year-old male child with a history of language delay, intermittent ataxia events and limb tremors in the context of infectious conditions. EEG investigation revealed diffuse slow waves and brain magnetic resonance imaging (MRI) showing hypersignal in the subcortical white matter with frontal predominance and caudate nuclei, suggesting leukodystrophy. Specific genetic evaluation for sequencing of the GFAP gene showed the presence of a pathogenic variant c.716G>A; p.(Arg239His). In five years of follow-up, the patient evolved with regression of the cerebellar syndrome, gains in language, maintaining pyramidal syndrome and mild intellectual disability. New brain MRI shows significant reduction of hyperintensity areas on T2 and FLAIR, in the subcortical regions of the frontal lobes, left occipital lobe, caudate nuclei and white matter periventricular.
Alexander's disease is a leukodystrophy of autosomal dominant inheritance, predominantly frontal, classified into neonatal, infantile, juvenile and adult forms, depending on age, clinical manifestations and radiological findings. The universal deposition of Rosenthal fibers in the central nervous system is pathognomonic of the disease. The diagnosis is established by neuroimaging findings with the presence of four of the following criteria: cerebral white matter abnormalities with frontal preponderance; periventricular hyposignal on T2 and hypersignal on T1; abnormalities of the basal ganglia and thalamus (hypersignal, atrophy or hyposignal on T2-weighted sequences); abnormalities in the brainstem, mainly medulla and midbrain; and periventricular signal enhancement, frontal white matter, optic chiasm, fornix, basal ganglia, thalamus, dentate nucleus and brainstem. The presence of macrocephaly, psychomotor regression, spasticity, ataxia and epilepsy suggests the genetic investigation of variants in the gene that encodes glial fibrillary acidic protein (GFAP) on chromosome 17q21. The patient evolves favorably, even with the confirmed diagnosis of Alexander's disease and significant regression of the lesions shown on the control MRI, something not described in the literature.
Alexander's disease is a slowly progressive leukodystrophy, often confused with chronic non-progressive encephalopathy, requiring molecular tests to confirm the diagnosis. The case report stands out for its favorable evolution and radiological improvement, not described in the literature.
Referências (se houver)
Alexander's Disease, leukodystrophy, ataxia, GFAP gene
Fonte de Fomento (se houver)
Declaração de conflito de interesses de TODOS os autores
Sem conflito de interesse
Erros inatos do metabolismo
Instituto Fernandes Figueira - Rio de Janeiro - Brasil
JULIA ROSSI BAZZANELLA, TAINÁ MAIA CARDOSO, FERNANDA VEIGA GÓES, MARCELA RODRIGUEZ DE FREITAS , ALINE FONSECA LIMA, BRUNA TORRES HOMEM FONSECA, SICILIA DA ROCHA COLLI, TIAGO DAZZI RIGONI, LUDIMILA MARINS DE ALMEIDA MOURA