Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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피질하 낭종을 동반한 거대뇌성 백질뇌병증 1예

A case of megalencephalic leukoencephalopathy with subcortical cysts

  • 박은영 (전남대학교 의과대학 소아과학교실) ;
  • 김영옥 (전남대학교 의과대학 소아과학교실) ;
  • 김지윤 (전남대학교 의과대학 소아과학교실) ;
  • 여채영 (전남대학교 의과대학 소아과학교실) ;
  • 백희조 (전남대학교 의과대학 소아과학교실) ;
  • 김찬종 (전남대학교 의과대학 소아과학교실) ;
  • 김은영 (광주기독병원 소아청소년과) ;
  • 우영종 (전남대학교 의과대학 소아과학교실)
  • 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)
  • 투고 : 2008.08.25
  • 심사 : 2008.10.10
  • 발행 : 2008.12.15
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초록

피질하 낭종을 동반한 거대뇌성 백질뇌병증은 뇌백질의 희귀성 질환으로 1990년대에 처음 보고되었다. 이는 자기공명 영상(MRI)에서 미만성의 백질 이상 및 다양한 정도로 발견되는 피질하 낭종과 함께 뇌의 종창을 보이는 것이 전형적이며, 이 병변은 특징적으로 대뇌 측두엽의 전반부를 침범하고, 심부의 뇌백질, 대뇌 기저핵, 시상과 소뇌는 상대적으로 보존되는 경향을 보인다. 피질하 낭종을 동반한 거대뇌성 백질뇌병증이 있는 환아는 큰 머리와 함께 운동 장애, 실조증, 강직과 인지 기능 장애 등의 신경학적 결함을 보인다. 저자들은 큰 머리와 함께 경련, 발달 지연, 뇌 MRI 의 T2 강조영상에서 양측성으로 전두, 측두, 두정엽에서 고신호강도의 백질 병변을 보이는 피질하 낭종을 동반한 거대뇌성 백질뇌병증에 합당한 소견을 보이는 20개월의 남자 환아를 경험하였기에 보고하는 바이다.

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.

키워드

참고문헌

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피인용 문헌

  1. Megalencephalic Leukoencephalopathy with Subcortical Cysts vol.9, pp.7, 2008, https://doi.org/10.14260/jemds/2020/103