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KMID : 1130320080510121342
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Korean Journal of Pediatrics
2008 Volume.51 No. 12 p.1342 ~ p.1345
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A case of megalencephalic leukoencephalopathy with subcortical cysts
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Park Eun-Young
Kim Young-Ok
Kim Ji-Yoon
Yeo Chae-Young
Baek Hee-Jo
Kim Chan-Jong
Kim Eun-Young
Woo Young-Jong
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Abstract
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients with MLC present with macrocephaly and neurological abnormalities such as motor deterioration, ataxia, spasticity, and cognitive deficits. We report a twenty-month-old boy who presented with seizures and macrocephaly, delay in development, and abnormal brain MRI findings compatible with the diagnosis of MLC. The brain MRI revealed bilateral hypersignal intense subcortical white matter regions in the frontal, temporal, and parietal lobes on T2-weighted images, which were not yet associated with cystic changes. During follow-up, the frequency of seizures decreased after anticonvulsant medication was started, but the head circumference remained above the 97th percentile, and the patient continued to have developmental delay.
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KEYWORD
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Megalencephalic leukoencephalopathy with subcortical cysts, Developmental disabilities
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