Megalencephalic leukoencephalopathy with subcortical cysts

Indian Pediatrics

Volumn 42, Issue 1, 2005, Pages 60-63

  Krishnan, K Hari ^a   Pauline, C Leema ^a   Kumaresan, G ^a,b   Mallika, T K Vasantha ^a  

^a INSTITUTE OF CHILD HEALTH AND HOSPITAL FOR CHILDREN   (India)

^b NONE   (India)

Author keywords

Macrocephaly; Megalencephalic leukoencephalopathy; Subcortical cysts; White matter degeneration

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; BRAIN CYST; BRAIN DEGENERATION; CASE REPORT; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FOCAL EPILEPSY; HUMAN; LEUKOENCEPHALOPATHY; MACROCEPHALY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PHYSIOTHERAPY; PRESCHOOL CHILD; URINALYSIS;

BRAIN NEOPLASMS; CENTRAL NERVOUS SYSTEM CYSTS; CHILD, PRESCHOOL; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 12744273681     PISSN: 00196061     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. 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: 324-334.
2. Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, et al. (2001) Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol 2001; 16: 93-99.
3. Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998; 20: 142-153.
4. Singhal BS, Gursahani RD, Udani VP, Biniwale AA, Megalencephalic leukodystrophy in an Asian Indian ethnic group. Pediatr Neurol 1996; 14: 291-296.
5. Leegwater FA, Boor PK, Yuan BQ, van der Steen J, Visser A, Konst AA, et al. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Hum Genet 2002; 110: 279-283.
6. Leegwater FA, Yuan BQ, van der Steen J, Mulders J, Konst AA, Boor PK, et al. Mutations of MLC1 (KIAAOO27), encoding a mutative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-838.
7. Marks HG, Caro PA, Wang ZY, Detre JA, Bogdan AR, Gusnard DA, et al. Use of computed tomography, magnetic resonance ' imaging, and localized 1 H magnetic resonance spectroscopy in Canavan's disease: a case report. Ann Neurol 1991; 30: 106-110.
8. van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol 2001; 22: 541-552.
9. Chen CY, Zimmerman RA, Lee CC, Chen FH, Yuh YS, Hsiao HS. Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 1998; 1628-1630.