Optic Nerve Enlargement Associated with Globoid Cell Leukodystrophy
نویسندگان
چکیده
منابع مشابه
[Globoid cell leukodystrophy].
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy. Globoid cell leukodystrophy is caused by the deficien...
متن کاملgloboid cell leukodystrophy (krabbe disease)
how to cite this article: tavasoli a. globoid cell leukodystrophy (krabbe disease). iran j child neurol. autumn 2014;8;4(suppl.1):14-15. pls see pdf.
متن کاملHematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...
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Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder resulting from the defective lysosomal hydrolysis of specific galactolipids found primarily in myelin. This leads to severe neurological symptoms including seizures, hypotonia, blindness, and death, usually before 2 years of age in human patients. In addition to human patients, several animals, including dog,...
متن کاملOptic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease.
Pediatric Neurology Unit, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre RS, Brazil; Genetic Department, HCPA; Medical Genetic Service, HCPA; Professor of the Genetic Department, HCPA; Neuroradiology Department of Hospital Moinhos de Vento, Porto Alegre RS, Brazil; Pediatric Neurologist, Head of the Pediatric Neurology Unit, HCPA. Adjunct Professor, Universidade Federal do Rio Grande...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2006
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100005047