Cystic leukoencephalopathy without megalencephaly: A distinct disease entity in 15 children

Neurology

Volumn 64, Issue 8, 2005, Pages 1411-1416

  Henneke, M ^a   Preuss, N ^a   Engelbrecht, V ^b   Aksu, F ^c   Bertini, E ^d   Bibat, G ^e   Brockmann, K ^a   Hubner C ^f   Mayer, M ^g   Mejaski Bosnjak, V ^h   Naidu, S ^e   Neumaier Probst, E ⁱ   Rodriguez, D ^j   Weisz, W ^k   Kohlschutter A ^k   Gartner J ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b St Marien Hospital   (Germany)

^c UNIVERSITY OF WITTEN HERDECKE   (Germany)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g HÔPITAL SAINT VINCENT DE PAUL   (France)

^h Croatia   (Croatia)

ⁱ UNIVERSITY OF HEIDELBERG   (Germany)

^j ARMAND TROUSSEAU HOSPITAL   (France)

^k UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALEXANDER DISEASE; ARTICLE; BRAIN CYST; BRAIN REGION; BRAIN VENTRICLE; CAUCASIAN; CLINICAL ARTICLE; CYSTIC LEUKOENCEPHALOPATHY; DISEASE SEVERITY; FEMALE; FRONTAL LOBE; HUMAN; INBORN ERROR OF METABOLISM; INFECTION; LEUKOENCEPHALOPATHY; MALE; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RELATIVE; SIBLING; TEMPORAL LOBE; WHITE MATTER;

EID: 20244368334     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000158472.82823.01     Document Type: Article

References (30)

1. Van der Knaap MJ, Valk J, eds. Magnetic resonance of myelin, myelination, and myelin disorders, 2nd ed. Berlin: Springer, 1995.
2. Berger J, Moser HW, Forss-Petter S. Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. Curr Opin Neurol 2001;14:305-312.
3. Schiffmann R, Boesflug-Tanguy O. An update on the leukodystrophies. Curr Opin Neurol 2001;14:789-794.
4. Van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-334.
5. Goutières F, Boulloche J, Bourgeois M, Aicardi J. Leukoencephalopathy, megalencephalopathy, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases J Child Neurol 1996;11:439-444.
6. Singhal BS, Gursahani RD, Udani VP, Biniwale AA. Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 1996;14:291-296.
7. Mejaski-Bosnjak V, Besenski N. Megalencephalic leukoencephalopathy: a further case of a new neurodegenerative white matter disease. Dev Med Child Neurol 1997;39:561-563.
8. Mejaski-Bosnjak V, Besenski N, Brockmann K, et al. Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings. Pediatr Neurol 1997;16:347-350.
9. Koeda T, Takeshita K. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. Brain Dev 1998;20:245-249.
10. Topcu M, Saatci I, Topcuoglu MA, et al. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998;20:142-153.
11. Thelle T, Balslev T, Christensen T. Van der Knaap's vacuolating leukoencephalopathy: two additional cases. Eur J Paediatr Neurol 1999;3:83-86.
12. Yacinci C, Soylu H, Kutlu NO, Sener RN. Leukoencephalopathy with a mild clinical course: a case report. Comput Med Imaging Graph 1999;23:169-172.
13. Takanashi J, Sugita K, Kohno Y. Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements. J Neurol Sci 1999;165:90-93.
14. Soylu H, Yüksel A, Kutlu NO, et al. Infantile-onset megalencephalic leucoencephalopathy in two siblings. J Paediatr Child Health 2000;36:598-602.
15. Gulati S, Kabra M, Gera S, et al. Infantile-onset leukoencephalopathy with discrepant mild clinical course. Indian J Pediatr 2000;67:769-773.
16. Leegwater PA, Yuan BQ, van der Steen J et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukencephalopathy with subcortical cysts. Am J Hum Genet 2001;68:831-838.
17. Blattner R, von Moers A, Leegwater PA, et al. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC). Neuropediatrics 2003;34:215-218.
18. Patrono C, Di Giacinto G, Eymard-Pierre E, et al. Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. Neurology 2003;61:534-537.
19. Olivier M, Lenard HG, Aksu F, Gärtner J. A new leukoencephalopathy with bilateral anterior temporal lobe cysts. Neuropediatrics 1998;29:225-228.
20. Gorospe JR, Singhal BS, Kainu T, et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004;62:878-882.
21. Zaatreh MM, Bates ER, Hooper SR, et al. Morphometric and neuropsychologic studies in children with arachnoid cysts. Pediatr Neurol 2002;26:134-138.
22. Anlar B, Yalaz K, Saatci I. Bilateral temporal cysts in a case of subacute sclerosing panencephalitis. Eur J Paediatr Neurol 2003;7:81-84.
23. Stadlan EM, Sung JH. Congenital rubella encephalopathy. J Neuropathol Exp Neurol 1967;26:115.
24. Istas AS, Demmler GJ, Dobbins JG, Stewart JA. Surveillance for congenital cytomegalovirus disease: a report from the National Congenital Cytomegalovirus Disease Registry. Clin Infect Dis 1995;20:665-670.
25. Barkovich AJ, Lindan CE. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. Am J Neuroradiol 1994;15:703-715.
26. Steinlin MI, Nadal D, Eich GF, et al. Late intrauterine cytomegalovirus infection: clinical and neuroimaging findings. Pediatr Neurol 1996;15:249-253.
27. Van der Knaap MS, Vermeulen G, Barkhof F, et al. Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology 2004;230:529-536.
28. Deonna T, Roulet E, Vallée L, et al. Bilateral temporal 'cysts', focal leucodystrophy, and non-progressive encephalopathy in three children: a special entity? Dev Med Child Neurol 1998;40:A18. Abstract.
29. Wassmer E, Barrat L, Green SH, Whitehouse WP. Siblings with developmental delay, mild spasticity and subcortical cysts: a further leukoencephalopathy? Eur J Paediatr Neurol 2001;5:169-173.
30. Gomes AL, Vieira JP, Saldanha J. Non-progressive leukoencephalopathy with bilateral temporal cysts. Eur J Paediatr Neurol 2001;5:121-125.