Alexander Disease
نویسندگان
چکیده
منابع مشابه
Psychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
متن کاملalexander and canavan disease
how to cite this article: shalbafan b. alexander and canavan disease. iran j child neurol. autumn 2014;8;4(suppl.1):20-21.
متن کاملNeonatal Alexander disease: MR imaging prenatal diagnosis.
SUMMARY Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the s...
متن کاملAlexander disease: diagnosis with MR imaging.
BACKGROUND AND PURPOSE To date, the demonstration of Rosenthal fibers on brain biopsy or autopsy specimens is considered a prerequisite for a definitive diagnosis of Alexander disease. We initiated a multiinstitutional survey of MR abnormalities in both presumed and confirmed cases of Alexander disease to assess the possibility of an MR-based diagnosis. METHODS MR imaging studies in three pat...
متن کاملJuvenile alexander disease: a case report.
Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults. It is characterized by megalencephaly, demyelinization and multiple Rosenthal fibers. Specific magnetic resonance imaging (MRI) findings and geneti...
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ژورنال
عنوان ژورنال: Journal of Genetic Medicine
سال: 2013
ISSN: 1226-1769,2383-8442
DOI: 10.5734/jgm.2013.10.2.88