New Insights in Vanishing White Matter Disease: Isolated Bilateral Optic Neuropathy in Adult Onset Disease

被引：5

作者：

Barros, Sandra R. ^{[1
]}

Parreira, Sonia C. R. ^{[1
]}

Miranda, Ana F. B. ^{[1
]}

Pereira, Ana M. B. ^{[1
]}

Campos, Nuno M. P. ^{[1
]}

机构：

[1] Garcia de Orta Hosp, Ophthalmol Dept, Av Torrado Silva, P-2801951 Almada, Portugal

来源：

JOURNAL OF NEURO-OPHTHALMOLOGY | 2018年 / 38卷 / 01期

关键词：

NATURAL-HISTORY; EIF2B-RELATED DISORDERS; LEUKOENCEPHALOPATHY; LEUKODYSTROPHY; MUTATIONS; DIAGNOSIS; GENOTYPE;

D O I：

10.1097/WNO.0000000000000565

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. Methods: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. Results: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally. MRI showed atrophy of the corpus callosum, diffuse rarefaction of cerebral white matter including the anterior and posterior visual pathways. Conclusion: Our patient had no further symptoms besides loss of visual acuity, which is rare in patients with VWMD of the same age and genetic mutation.

引用

页码：42 / 46

页数：5

共 23 条

[1] Leukoencephalopathy With Vanishing White Matter: A Review [J].

Bugiani, Marianna ;

Boor, Ilja ;

Powers, James M. ;

Scheper, Gert C. ;

van der Knaap, Marjo S. .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2010, 69 (10) :987-996

[2] Natural history of adult-onset eIF2B-related disorders: A multicentric survey of 24 cases [J].

Carra-Dalliere, C. ;

Horzinski, L. ;

Ayrignac, X. ;

Vukusic, S. ;

Rodriguez, D. ;

Mauguiere, F. ;

Peter, L. ;

Goizet, C. ;

Bouhour, F. ;

Denier, C. ;

Confavreux, C. ;

Obadia, M. ;

Blanch, F. ;

de Seze, J. ;

Sedel, F. ;

Guennoc, A. -M. ;

Sartori, E. ;

Laplaud, D. ;

Antoine, J. -C. ;

Fogli, A. ;

Boespflug-Tanguy, O. ;

Labauge, P. .

REVUE NEUROLOGIQUE, 2011, 167 (11) :802-811

[3] Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis [J].

Denier, C. ;

Orgibet, A. ;

Roffi, F. ;

Jouvent, E. ;

Buhl, C. ;

Niel, F. ;

Boespflug-Tanguy, O. ;

Said, G. ;

Ducreux, D. .

NEUROLOGY, 2007, 68 (18) :1538-1539

[4] Update on Several/Certain Adult-Onset Genetic Leukoencephalopathies: Clinical Signs and Molecular Confirmation [J].

Di Donato, Ilaria ;

Dotti, Maria Teresa ;

Federico, Antonio .

JOURNAL OF ALZHEIMERS DISEASE, 2014, 42 :S27-S35

[5] The effect of genotype on the natural history of eIF2B-related leukodystrophies [J].

Fogli, A ;

Schiffmann, R ;

Bertini, E ;

Ughetto, S ;

Combes, P ;

Eymard-Pierre, E ;

Kaneski, CR ;

Pineda, M ;

Troncoso, M ;

Uziel, G ;

Surtees, R ;

Pugin, D ;

Chaunu, MP ;

Rodriguez, D ;

Boespflug-Tanguy, O .

NEUROLOGY, 2004, 62 (09) :1509-1517

[6] Ovarian failure related to eukaryotic initiation factor 2B mutations [J].

Fogli, A ;

Rodriguez, D ;

Eymard-Pierre, E ;

Bouhour, F ;

Labauge, P ;

Meaney, BF ;

Zeesman, S ;

Kaneski, CR ;

Schiffmann, R ;

Boespflug-Tanguy, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1544-1550

[7] Fatal infantile leukodystrophy - A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27 [J].

Francalanci, P ;

Eymard-Pierre, E ;

Dionisi-Vici, C ;

Boldrini, R ;

Piemonte, F ;

Virgili, R ;

Fariello, G ;

Bosman, C ;

Santorelli, FM ;

Boespflug-Tanguy, O ;

Bertini, E .

NEUROLOGY, 2001, 57 (02) :265-270

[8] Leukoencephalopathy with vanishing white matter presenting with presenile dementia [J].

Gascon-Bayarri, J. ;

Campdelacreu, J. ;

Sanchez-Castaneda, C. ;

Martinez-Yelamos, S. ;

Moragas, M. ;

Scheper, G. C. ;

Van der Knaap, M. S. ;

Rene, Ramon .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (07) :810-811

[9] DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY [J].

HANEFELD, F ;

HOLZBACH, U ;

KRUSE, B ;

WILICHOWSKI, E ;

CHRISTEN, HJ ;

FRAHM, J .

NEUROPEDIATRICS, 1993, 24 (05) :244-248

[10] Acute fright induces onset of symptoms in vanishing white matter disease - Case report [J].

Kaczorowska, M. ;

Kuczynski, D. ;

Jurkiewicz, E. ;

Scheper, G. C. ;

van der Knaap, M. S. ;

Jozwiak, S. .

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2006, 10 (04) :192-193

← 1 2 3 →