Vanishing White Matter Disease with Mutations in EIF2B5 Gene

被引：3

作者：

Sharma, Suvasini ^{[1
]}

Ajij, Mohemmed ^{[1
]}

Singh, Varinder ^{[1
]}

Aneja, Satinder ^{[1
]}

机构：

[1] Lady Hardinge Med Coll & Associated Kalawati Sara, Dept Pediat, New Delhi 110001, India

来源：

INDIAN JOURNAL OF PEDIATRICS | 2015年 / 82卷 / 01期

关键词：

Childhood ataxia with central nervous system hypomyelination; EIF2B5; Leukodystrophy; LEUKOENCEPHALOPATHY;

D O I：

10.1007/s12098-014-1583-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

An 18-mo-old girl was brought with complaints of sudden loss of attained milestones after a febrile illness at 13 mo of age. MRI of the brain showed extensive loss of white matter with rarefaction and cystic degeneration; suggestive of vanishing white matter disease. The patient was found to be compound heterozygote for two mutations in the gene EIF2B5; confirming the diagnosis.

引用

页码：93 / 95

页数：3

共 8 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] Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter [J].

Leegwater, PAJ ;

Vermeulen, G ;

Könst, AAM ;

Naidu, S ;

Mulders, J ;

Visser, A ;

Kersbergen, P ;

Mobach, D ;

Fonds, D ;

van Berkel, CGM ;

Lemmers, RJLF ;

Frants, RR ;

Oudejans, CBM ;

Schutgens, RBH ;

Pronk, JC ;

van der Knaap, MS .

NATURE GENETICS, 2001, 29 (04) :383-388

[3] Genetic and clinical heterogeneity in eIF2B-related disorder [J].

Maletkovic, Jelena ;

Schiffmann, Raphael ;

Gorospe, J. Rafael ;

Gordon, Erynn S. ;

Mintz, Michelle ;

Hoffman, Eric P. ;

Alper, Gulay ;

Lynch, David R. ;

Singhal, Bhim S. ;

Harding, Cary ;

Amartino, Hernan ;

Brown, Candida M. ;

Chan, Alicia ;

Renaud, Deborah ;

Geraghty, Michael ;

Jensen, Lloyd ;

Senbil, Nesrin ;

Kadom, Nadja ;

Nazarian, Javad ;

Feng, Yuanjian ;

Wang, Zuyi ;

Hartka, Thomas ;

Morizono, Hiroki ;

Vanderver, Adeline .

JOURNAL OF CHILD NEUROLOGY, 2008, 23 (02) :205-215

[4] Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures [J].

Sharma, Suvasini ;

Arya, Ravindra ;

Raju, K. N. Vykunta ;

Kumar, Atin ;

Scheper, Gert C. ;

van der Knaap, Marjo S. ;

Gulati, Sheffali .

JOURNAL OF CHILD NEUROLOGY, 2011, 26 (03) :366-368

[5] A Japanese girl with leukoencephalopathy with vanishing white matter [J].

Sugiura, C ;

Miyata, H ;

Aka, A ;

Takashima, S ;

Ohama, E ;

Takeshita, K .

BRAIN & DEVELOPMENT, 2001, 23 (01) :58-61

[6]

van der Knaap MS, 2010, METABOLIC MOL BASES

[7] Vanishing white matter disease [J].

van der Knapp, MS ;

Scheper, GCS ;

Pronk, JC .

LANCET NEUROLOGY, 2006, 5 (05) :413-423

[8]

Wong SSN, 2008, J CHILD NEUROL, V23, P710, DOI [10.1177/088307380314154, 10.1177/0883073808314154]

← 1 →