Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지
DOI QR코드

DOI QR Code

A case of megalencephalic leukoencephalopathy with subcortical cysts

피질하 낭종을 동반한 거대뇌성 백질뇌병증 1예

  • 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)
  • 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)
  • Received : 2008.08.25
  • Accepted : 2008.10.10
  • Published : 2008.12.15
Download PDF
⟨ Previous Next ⟩

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.

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.

Keywords

References

  1. Gorospe JR, Maletkovic J. Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev 2006;12:113-22 https://doi.org/10.1002/mrdd.20101
  2. Tu YF, Chen CY, Huang CC, Lee CS. Vacuolating megalencephalic leukoencephalopathy with mild clinical course validated by diffusion tensor imaging and MR spectroscopy. AJNR Am J Neuroradiol 2004;25:1041-5
  3. Chandrashekar HS, Guruprasad AS, Jayakumar PN, Srikanth SG, Taly AB. Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features. Neurol India 2003;51:525-7
  4. Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 2003; 18:646-52 https://doi.org/10.1177/08830738030180091201
  5. Panicker J, Sinha S, Taly AB, Mahadevan A, Sagar C, Srikanth SG, et al. Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India. Neurol India 2007;55:399-402 https://doi.org/10.4103/0028-3886.33310
  6. Singhal BS, Gursahani RD, Biniwale AA. Udani VP. Megalencephalic leukodystrophy in India, abstract. Proceedings of the 8th Asian and Oceanian Congress of Neurology; 1991 Sep 5; Tokyo, Japan. Asian and Oceanian Congress of Neurology, 1991
  7. Blattner R, Von Moers A, Leegwater PA, Hanefeld FA, van der Knapp MS, Köhler W. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). Neuropediatrics 2003;34:215-8 https://doi.org/10.1055/s-2003-42210
  8. Singhal BS, Gursahani RD, Udani VP, Biniwale AA. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 1996;14:291-6 https://doi.org/10.1016/0887-8994(96)00048-3
  9. van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-34 https://doi.org/10.1002/ana.410370308
  10. Ilja Boor PK, de Groot K, Mejaski-Bosnjak, V, Brenner C, van der Knapp MS, Scheper GC, et al. Megalencephalic leukoencephalopathy with subcortical cysts; an update and extended mutation analysis on MLC1. Hum Mutat 2006;27: 505-12 https://doi.org/10.1002/humu.20332
  11. Sugiura S, Shiota M, Maegaki Y, Yoshida K, Koeda T, Kitahara T, et al. Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts. Neuropediatics 2006;37:286-90 https://doi.org/10.1055/s-2006-955930
  12. Sethi PK, Sethi NK. Megalencephalic leukoencephalopathy with subcortical cysts. Indian J Pediatr 2004;71:473-5 https://doi.org/10.1007/BF02725646
  13. Brockmann K, Finsterbusch J, Terwey B, Frahm J, Hanefeld F. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003;45:137-42 https://doi.org/10.1007/s00234-002-0931-7
  14. van der Knaap MS, Barth PG, Vrensen GF, Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 1996;92:206-12 https://doi.org/10.1007/s004010050510
  15. Topcu M, Gartioux C, Ribierre F, Yalcinkaya C, Tokus E, Oztekin N, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000;66:733-9 https://doi.org/10.1086/302758
  16. Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, et al. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and higher than expected carrier rate among Libyan Jews. Hum Genet 2002;111:214-8 https://doi.org/10.1007/s00439-002-0770-y
  17. Choi JM. 2005 Standards for growth for Korean child and adolescence. The 56th Korean pediatric annual meeting. Abstract Book; 2005 Apr 28-29; Yongpyung, Korea. Seoul: Korean Pediatric Society, 2005
  18. Bakovich AJ, Moore KR, Jones BV, Vezina G, Koch BL, Raybaud C, et al. MLC. In: Bakovich AJ, Moore KR, Jones BV, Vezina G, Koch BL, Raybaud C, et al. 1st ed. USA: Amirsys, Inc, 2007;100-3

Cited by

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