Korean Journal of Pediatrics 2008;51(12):1342-1345.
Published online December 15, 2008.
A case of megalencephalic leukoencephalopathy with subcortical cysts
Eun Young Park1, Young Ok Kim1, Ji Youn Kim1, Chae Young Yeo1, Hee Jo Baek1, Chan Jong Kim1, Eun Young Kim2, Young Jong Woo1
1Department of Pediatrics, School of Medicine, Chonnam National University, Gwangju, Korea
2Department of Pediatrics, Gwangju Christian Hospital, Gwangju, Korea
피질하 낭종을 동반한 거대뇌성 백질뇌병증 1예
박은영1, 김영옥1, 김지윤1, 여채영1, 백희조1, 김찬종1, 김은영2, 우영종1
1전남대학교 의과대학 소아과학교실
2광주기독병원 소아청소년과
Correspondence: 
Young Ok Kim, Email: ik052@unitel.co.kr
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.
Key Words: Megalencephalic leukoencephalopathy with subcortical cysts, Developmental disabilities


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