Krabbe disease (globoid cell leukodystrophy): a case report
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چکیده
منابع مشابه
globoid 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 کامل[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 کامل[Krabbe s disease - case report]
OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination showed microcephaly and diffuse pigmentation of the retinae. Neurological examination showed flex...
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...
متن کاملGloboid cell-like leukodystrophy in a domestic longhaired cat.
Globoid cell leukodystrophy (GLD; Krabbe disease), is a rare heritable metabolic disorder in humans, dogs, mutant twitcher mice, and rhesus monkeys that is caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). GALC deficiency results in the accumulation of psychosine, which is toxic to oligodendrocytes and Schwann cells of the central and peripheral nervous systems. Clinic...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 1998
ISSN: 0021-7557
DOI: 10.2223/jped.427