期刊
ARQUIVOS DE NEURO-PSIQUIATRIA
卷 66, 期 2A, 页码 261-263出版社
ASSOC ARQUIVOS NEURO- PSIQUIATRIA
DOI: 10.1590/S0004-282X2008000200027
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The coming of magnetic resonance imaging (MRI) into clinical practice added advances in understanding the white matter diseases in children(1). Previously, white matter and metabolic diseases were found to have a relatively specific pattern that could help in differential diagnosis, and primary defects in many inborn leukoencephalopathies have been elucidated including disorders from lysossomal storage, amino and organic acids, muscle and mitochondrial dysfunction(1,2) . Recent reports have described an apparently non-progressive condition characterized by severe psychomotor delay with variable degrees of tone and reflex abnormalities, normo- or microcephaly, and MRI findings consisting of bilateral anterior temporal cystic lesions with pericystic abnormal myelination and symmetric patchy lesions with increased signal in the frontal and occipital periventricular white matter regions'. Few patients with this condition have been described in literature(1-4). in some aspects, this condition may resembles other leukoencephalopathies such as megalencephalic leukoencephalopathy with subcortical cysts and leukoencephalopathy with vanishing white matter, due to the presence of subcortical cysts and white matter abnormalities, however, the clinical presentation and other neuroimaging features are distinct(3). We describe the clinical, laboratory and neuroimaging characteristics of a patient with this rare entity.
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