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http://dx.doi.org/10.3345/kjp.2008.51.12.1342

A case of megalencephalic leukoencephalopathy with subcortical cysts  

Park, Eun Young (Department of Pediatrics, School of Medicine, Chonnam National University)
Kim, Young Ok (Department of Pediatrics, School of Medicine, Chonnam National University)
Kim, Ji Youn (Department of Pediatrics, School of Medicine, Chonnam National University)
Yeo, Chae Young (Department of Pediatrics, School of Medicine, Chonnam National University)
Baek, Hee Jo (Department of Pediatrics, School of Medicine, Chonnam National University)
Kim, Chan Jong (Department of Pediatrics, School of Medicine, Chonnam National University)
Kim, Eun Young (Department of Pediatrics, Gwangju Christian Hospital)
Woo, Young Jong (Department of Pediatrics, School of Medicine, Chonnam National University)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.12, 2008 , pp. 1342-1345 More about this Journal
Abstract
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.
Keywords
Megalencephalic leukoencephalopathy with subcortical cysts; Developmental disabilities;
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