Two siblings with a similar white-matter disease but different clinical symptoms are described. The first sibling suffers from nonprogressive spastic hemiparesis secondary to a congenital periventricular porencephalic cyst. Her brother has focal epilepsy. On magnetic resonance imaging, both patients show diffuse white-matter involvement predominantly of the posterior periventricular area. We suggest that this is a familial white-matter disorder with minimal symptoms and no progression in early childhood. (J Child Neurol 2006;21:145—148; DOI 10.2310/7010.2006.00036).
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References
1.
van der Knaap MS, Breiter SN, Naidu S., et al: Definition and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology1999;213:121—133.
2.
van der Knaap MS: Magnetic resonance in childhood white-matter disorders. Dev Med Child Neurol2001;43:705—712.
3.
Kaye EM: Update on genetic disorders affecting white matter. Pediatr Neurol2001;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 Neurol1997;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 Disord2002;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. Neuroradiology1991;33:478—493.
7.
Kristjansdottir R., Uvebrant P., Hagberg B., et al: Disorders of the cerebral white matter in children. The spectrum of lesions. Neuropediatrics1996;27:295—298.
8.
Kristjansdottir R., Uvebrant P., Wiklund L-M.: Clinical characteristics of children with cerebral white matter abnormalities. Eur J PaediatrNeurol2000;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 Neurol1995;37:324—334.
10.
van der Knaap MS, Barth PG, Gabreels FJ, et al: A new leukoencephalopathy with vanishing white matter. Neurology1997;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 Neurol2003;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. Radiology2004;230:529—536.
13.
Gurses C., Gross DW, Andermann F., et al: Periventricular leukomalacia and epilepsy: Incidence and seizure pattern. Neurology1999;52:341—345.
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 Genet2002;111:214—218.
16.
Mancini Gms, de Coo Ifm, Lequin MH, Arts WF: Hereditary porencephaly: Clinical and MRI findings in two Dutch families. EurJ Paediatr Neurol2004; 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 Genet2003;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 Neurol2002;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. Neurology2002;59: 1966—1968.
20.
Bergui M., Bradac GB, Leombruni S., et al: MRI and CT in an autosomal-dominant adult-onset leukodystrophy . Neuroradiology1997;39:423—426.
21.
Desmond DW, Moroney JT, Lynch T., et al: The natural history of CADASIL. A pooled analysis of previously published cases. Stroke1999;30:1230—1233.
22.
Kotorii S., Sakae N., Yamada N., et al: A case of CADASIL in early stage. Rinsho Shinkeigaku2001;41:306—309.
23.
Skehan SJ, Hutchinson M., MacErlaine DP: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings. AJNR Am J Neuroradiol1995;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 Radiol2000;73:256—265.
25.
Ahearn EP, Steffens DC, Cassidy F., et al: Familial leukoencephalopathy in bipolar disorder. Am J Psychiatry1998;155:1605—1607.
