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Master's Dissertation
DOI
10.11606/D.5.2005.tde-17042006-094726
Document
Author
Full name
Maria Sigride Thomé de Souza
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2005
Supervisor
Committee
Kok, Fernando (President)
Arita, Fernando Norio
Gherpelli, José Luiz Dias
Title in Portuguese
"Leucoencefalopatia com substância branca evanescente: estudo clínico e de neuroimagem"
Keywords in Portuguese
Espectroscopia de ressonância magnética
Fator de iniciação 2B em eucariotos
Imagem de difusão por ressonância magnética
Imagem por ressonância magnética
Abstract in Portuguese
Leucoencefalopatia com substância branca evanescente é uma doença geneticamente determinada, causada por mutação no gene do eIF2B. A idade varia do período pré-natal até idade adulta, as manifestações geralmente são desencadeadas por trauma ou infecção. Os sintomas são variáveis, incluem ataxia cerebelar, espasticidade e relativa preservação cognitiva. Os achados de ressonância magnética (RM) são típicos e caracterizam-se por extenso comprometimento da substância branca. Estudamos 10 pacientes, com evolução súbita ou progressiva dos primeiros sintomas, entre 1 a 12 anos de idade. Ataxia e espasticidade estavam presentes em todos os pacientes e funções cognitivas relativamente preservadas. A clínica associada à RM, que demonstrava comprometimento difuso da substância branca, permitiu o diagnóstico
Title in English
Leukoencephalopathy with vanishing white matter: clinical and neuroimage studies
Keywords in English
Diffusion magnetic resonance imaging
Eukaryotic initiation factor-2B
Magnetic resonance imaging
Magnetic resonance spectroscopy
Abstract in English
Leukoencephalopathy with vanishing white matter is an inherited disorder caused by mutation in one of five subunits of eIF2B gene. Age of onset varies from prenatal to adulthood and manifestations are commonly triggered by trauma or infection. Symptoms are variable and include cerebellar ataxia and spasticity, with relative sparing of cognitive function. Magnetic resonance imaging (MRI) findings are typically characterized by widespread white matter abnormality. We studied 10 patients, with sudden or slowly progressive symptoms starting between 1-12 years of age. Ataxia and spasticity were present in all patients, and cognitive functions were relatively preserved. MRI studies demonstrated diffuse white matter abnormalities which, combined with clinical findings, allow diagnosis
 
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Publishing Date
2006-04-17
 
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