Vanishing White Matter Disease with Macrocephaly
نویسندگان
چکیده
منابع مشابه
Vanishing White Matter Disease
Vanishing white matter disease 1 (VWM) is a puzzling leukoencephalopathy caused by mutations in any of the five genes encoding eukaryotic translation initiation factor 2B (eIF2B), an ubiquitously expressed protein complex with a crucial role in initiation of mRNA translation for virtually every protein in the human body. VWM is one of the most prevalent inherited childhood white matter disorder...
متن کاملAtypical presentation of vanishing white matter disease.
Dra. Lucia Maria da Costa Fontenelle – Rua Sorocaba 464 / 302 22271-110 Rio de Janeiro RJ Brasil. E-mail: [email protected] Leukoencephalopathy with vanishing white matter (VWM) has also been called childhood ataxia with central hypomyelination (CACH). VWM was described by van der Knaap et al. in nine children with a leukoencephalopathy of similar type according to clinical and MRI fi...
متن کاملLeukoencephalopathy with vanishing white matter: a review.
Vanishing white matter (VWM) is one of the most prevalent inherited childhood leukoencephalopathies, but this may affect people of all ages, including neonates and adults. It is a progressive disorder clinically dominated by cerebellar ataxia and in which minor stress conditions, such as fever or mild trauma, provoke major episodes of neurologic deterioration. Typical pathological findings incl...
متن کاملVanishing White Matter Disease in a Spanish Population
Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia i...
متن کاملGenotype-phenotype correlation in vanishing white matter disease.
OBJECTIVE Vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy characterized by slowly progressive ataxia and spasticity with additional stress-provoked episodes of rapid and major deterioration. The disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B, which is pivotal in translation of mRNAs into proteins. The disease onset...
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ژورنال
عنوان ژورنال: American Medical Student Research Journal
سال: 2015
ISSN: 2333-4096
DOI: 10.15422/amsrj.2015.03.005