Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures

Journal of Child Neurology

Volumn 21, Issue 2, 2006, Pages 145-148

  Blumkin, Lubov ^a   Watemberg, Nathan ^a   Lev, Dorit ^a   Malinger, Gustavo ^a   Luckman, Yehudit ^a   Ben Zeev, Bruria ^b   Lerman Sagie, Tally ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; VALPROIC ACID;

ARTICLE; BRAIN CYST; CAPSULA INTERNA; CASE REPORT; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CORPUS CALLOSUM; DENTATE NUCLEUS; DIFFUSION WEIGHTED IMAGING; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; EPILEPTIC FOCUS; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM RESPONSE; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FOCAL EPILEPSY; HEMIPARESIS; HUMAN; HYPERACTIVITY; HYPERSALIVATION; HYPOTHALAMUS PERIVENTRICULAR NUCLEUS; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SIBLING; SIMPLE PARTIAL SEIZURE; WHITE MATTER;

BRAIN; CENTRAL NERVOUS SYSTEM CYSTS; CEREBRAL VENTRICLES; DEVELOPMENTAL DISABILITIES; EPILEPSIES, PARTIAL; FEMALE; HEMIPLEGIA; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; IMAGE ENHANCEMENT; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NERVE FIBERS, MYELINATED;

EID: 33646849852     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210021701     Document Type: Article

References (25)

1. van der Knaap MS, Breiter SN, Naidu S, et al: Definition and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 1999;213:121-133.
2. van der Knaap MS: Magnetic resonance in childhood white-matter disorders. Dev Med Child Neurol 2001;43:705-712.
3. Kaye EM: Update on genetic disorders affecting white matter. Pediatr Neurol 2001;24:11-24.
4. van der Knaap MS, Smith LM, Barth PG, et al: Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997;42:50-59.
5. Di Costanzo A, Di Salle F, Santoro L, et al: Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: Case-control study. Neuromuscul Disord 2002;12:476-483.
6. van der Knaap MS, Valk J, de Neeling N, Nauta JJP: Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991;33:478-493.
7. Kristjansdottir R, Uvebrant P, Hagberg B, et al: Disorders of the cerebral white matter in children. The spectrum of lesions. Neuropediatrics 1996;27:295-298.
8. Kristjansdottir R, Uvebrant P, Wiklund L-M: Clinical characteristics of children with cerebral white matter abnormalities. Eur J Paediatr Neurol 2000;4:17-26.
9. 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.
10. van der Knaap MS, Barth PG, Gabreels FJ, et al: A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
11. van der Knaap MS, van der Voorn P, Barkhof F, et al: A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003;53:252-258.
12. 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.
13. Gurses C, Gross DW, Andermann F, et al: Periventricular leukomalacia and epilepsy: Incidence and seizure pattern. Neurology 1999;52:341-345.
14. Singhal BS, Gorospe JR, Sakkubai N: Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 2003;18:646-652.
15. Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al: Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Hum Genet 2002;111:214-218.
16. Mancini GMS, de Coo IFM, Lequin MH, Arts WF: Hereditary porencephaly: Clinical and MRI findings in two Dutch families. Eur J Paediatr Neurol 2004; 8: 45-54.
17. van der Knaap MS, van Berkel CGM, Herms J, et al: eIF2B-related disorders: Antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207.
18. van der Knaap MS, Leegwater PA, Konst AA, et al: Mutations in each of the five subunits of translocation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002;51:264-270.
19. Folgi A, Dionisi-Vici C, Deodato F, et al: A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation. Neurology 2002;59: 1966-1968.
20. Bergui M, Bradac GB, Leombruni S, et al: MRI and CT in an autosomal-dominant adult-onset leukodystrophy. Neuroradiology 1997;39:423-426.
21. Desmond DW, Moroney JT, Lynch T, et al: The natural history of CADASIL. A pooled analysis of previously published cases. Stroke 1999;30:1230-1233.
22. Kotorii S, Sakae N, Yamada N, et al: A case of CADASIL in early stage. Rinsho Shinkeigaku 2001;41:306-309.
23. Skehan SJ, Hutchinson M, MacErlaine DP: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings. AJNR Am J Neuroradiol 1995;16:2115-2119.
24. Coulthard A, Blank SC, Bushby K, et al: Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br J Radiol 2000;73:256-265.
25. Ahearn EP, Steffens DC, Cassidy F, et al: Familial leukoencephalopathy in bipolar disorder. Am J Psychiatry 1998;155:1605-1607.